Q9UMX9 (S45A2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Membrane-associated transporter protein

Alternative name(s):
Melanoma antigen AIM1
Short name=Protein AIM-1
Solute carrier family 45 member 2

Gene names

Name:	SLC45A2
Synonyms:	AIM1, MATP

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	530 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Melanocyte differentiation antigen. May transport substances required for melanin biosynthesis By similarity.
Subcellular location	Melanosome membrane; Multi-pass membrane protein Ref.4.
Tissue specificity	Expressed in most melanoma cell lines and melanocytes.
Polymorphism	Genetic variants in SLC45A2 define the skin/hair/eye pigmentation variation locus 5 (SHEP5) [MIM:227240]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair.
Involvement in disease	Albinism oculocutaneous 4 (OCA4) [MIM:606574]: A disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5 Ref.6 Ref.7 Ref.9 Ref.13
Sequence similarities	Belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family. [View classification]
Sequence caution	The sequence AAH03597.1 differs from that shown. Reason: Frameshift at position 188.

Ontologies

Keywords
Biological process	Melanin biosynthesis Sensory transduction Vision
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Albinism Disease mutation
Domain	Transmembrane Transmembrane helix
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	developmental pigmentation Inferred from electronic annotation. Source: Compara melanin biosynthetic process Inferred from electronic annotation. Source: UniProtKB-KW response to stimulus Inferred from electronic annotation. Source: UniProtKB-KW visual perception Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW melanosome membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.

Isoform 1 (identifier: Q9UMX9-1)

Also known as: AIM-1a;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9UMX9-2)

Also known as: AIM-1b;

The sequence of this isoform differs from the canonical sequence as follows:
     188-295: Missing.
     386-406: YFQKVLVSYIGLKGLYFTGYL → CKSFSLLRMSSKSFWSSTTWI
     407-530: Missing.

Isoform 3 (identifier: Q9UMX9-3)

Also known as: AIM-1c;

The sequence of this isoform differs from the canonical sequence as follows:
     129-187: Missing.

Note: No experimental confirmation available.

Isoform 4 (identifier: Q9UMX9-4)

The sequence of this isoform differs from the canonical sequence as follows:
     457-460: RQQA → VCCH
     461-530: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 530	530	Membrane-associated transporter protein		PRO_0000122517
Regions
	Topological domain	1 – 46	46	Cytoplasmic Potential
	Transmembrane	47 – 67	21	Helical; Name=1; Potential
	Topological domain	68	1	Extracellular Potential
	Transmembrane	69 – 89	21	Helical; Name=2; Potential
	Topological domain	90 – 110	21	Cytoplasmic Potential
	Transmembrane	111 – 131	21	Helical; Name=3; Potential
	Topological domain	132 – 138	7	Extracellular Potential
	Transmembrane	139 – 159	21	Helical; Name=4; Potential
	Topological domain	160 – 184	25	Cytoplasmic Potential
	Transmembrane	185 – 205	21	Helical; Name=5; Potential
	Topological domain	206 – 216	11	Extracellular Potential
	Transmembrane	217 – 237	21	Helical; Name=6; Potential
	Topological domain	238 – 318	81	Cytoplasmic Potential
	Transmembrane	319 – 339	21	Helical; Name=7; Potential
	Topological domain	340 – 366	27	Extracellular Potential
	Transmembrane	367 – 387	21	Helical; Name=8; Potential
	Topological domain	388 – 398	11	Cytoplasmic Potential
	Transmembrane	399 – 419	21	Helical; Name=9; Potential
	Topological domain	420 – 425	6	Extracellular Potential
	Transmembrane	426 – 446	21	Helical; Name=10; Potential
	Topological domain	447 – 477	31	Cytoplasmic Potential
	Transmembrane	478 – 498	21	Helical; Name=11; Potential
	Topological domain	499 – 504	6	Extracellular Potential
	Transmembrane	505 – 525	21	Helical; Name=12; Potential
	Topological domain	526 – 530	5	Cytoplasmic Potential
Amino acid modifications
	Glycosylation	356	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	129 – 187	59	Missing in isoform 3.		VSP_006296
	Alternative sequence	188 – 295	108	Missing in isoform 2.		VSP_006297
	Alternative sequence	386 – 406	21	YFQKV…FTGYL → CKSFSLLRMSSKSFWSSTTW I in isoform 2.		VSP_006298
	Alternative sequence	407 – 530	124	Missing in isoform 2.		VSP_006299
	Alternative sequence	457 – 460	4	RQQA → VCCH in isoform 4.		VSP_041220
	Alternative sequence	461 – 530	70	Missing in isoform 4.		VSP_041221
	Natural variant	42	1	M → I in OCA4. Ref.13		VAR_067071
	Natural variant	58	1	P → A in OCA4. Ref.7		VAR_022710
	Natural variant	58	1	P → S in OCA4. Ref.6		VAR_022711
	Natural variant	64	1	G → S in OCA4. Ref.13		VAR_067072
	Natural variant	157	1	D → N in OCA4. Ref.6 Ref.9 Ref.13		VAR_022712
	Natural variant	188	1	G → V in OCA4. Ref.6		VAR_022713
	Natural variant	202	1	W → C in OCA4. Ref.7		VAR_022714
	Natural variant	221	1	Missing in OCA4. Ref.7		VAR_022715
	Natural variant	272	1	E → K Associated with SHEP5; significantly associated with dark hair, skin and eye color in Caucasians. Ref.6 Ref.7 Ref.8 Ref.10 Ref.13 Corresponds to variant rs26722 [ dbSNP | Ensembl ].		VAR_022716
	Natural variant	302	1	T → S in OCA4. Ref.13		VAR_067073
	Natural variant	317	1	Y → C in OCA4. Ref.7		VAR_022717
	Natural variant	348	1	R → C in OCA4. Ref.13		VAR_067074
	Natural variant	361	1	L → P in OCA4. Ref.7 Corresponds to variant rs28939380 [ dbSNP | Ensembl ].		VAR_022718
	Natural variant	374	1	L → F Common polymorphism; associated with SHEP5; significantly associated with dark hair, skin and eye color in Caucasians. Ref.1 Ref.3 Ref.5 Ref.7 Ref.8 Ref.10 Ref.11 Ref.12 Ref.13 Corresponds to variant rs16891982 [ dbSNP | Ensembl ].		VAR_012162
	Natural variant	477	1	A → T in OCA4. Ref.7		VAR_022719
	Natural variant	486	1	A → V in OCA4. Ref.7		VAR_022720
	Natural variant	500	1	T → P. Ref.6 Corresponds to variant rs11568737 [ dbSNP | Ensembl ].		VAR_022721
	Natural variant	507	1	V → L. Ref.6 Ref.8 Corresponds to variant rs3733808 [ dbSNP | Ensembl ].		VAR_022722

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (AIM-1a) [UniParc]. Last modified March 6, 2007. Version 2. Checksum: 11AA45A24EC1B35B	FASTA	530	58,268
	10 20 30 40 50 60 MGSNSGQAGR HIYKSLADDG PFDSVEPPKR PTSRLIMHSM AMFGREFCYA VEAAYVTPVL 70 80 90 100 110 120 LSVGLPSSLY SIVWFLSPIL GFLLQPVVGS ASDHCRSRWG RRRPYILTLG VMMLVGMALY 130 140 150 160 170 180 LNGATVVAAL IANPRRKLVW AISVTMIGVV LFDFAADFID GPIKAYLFDV CSHQDKEKGL 190 200 210 220 230 240 HYHALFTGFG GALGYLLGAI DWAHLELGRL LGTEFQVMFF FSALVLTLCF TVHLCSISEA 250 260 270 280 290 300 PLTEVAKGIP PQQTPQDPPL SSDGMYEYGS IEKVKNGYVN PELAMQGAKN KNHAEQTRRA 310 320 330 340 350 360 MTLKSLLRAL VNMPPHYRYL CISHLIGWTA FLSNMLFFTD FMGQIVYRGD PYSAHNSTEF 370 380 390 400 410 420 LIYERGVEVG CWGLCINSVF SSLYSYFQKV LVSYIGLKGL YFTGYLLFGL GTGFIGLFPN 430 440 450 460 470 480 VYSTLVLCSL FGVMSSTLYT VPFNLITEYH REEEKERQQA PGGDPDNSVR GKGMDCATLT 490 500 510 520 530 CMVQLAQILV GGGLGFLVNT AGTVVVVVIT ASAVALIGCC FVALFVRYVD
	Isoform 2 (AIM-1b) [UniParc]. Checksum: 7287F068BADB65DE	FASTA	298	33,481
	10 20 30 40 50 60 MGSNSGQAGR HIYKSLADDG PFDSVEPPKR PTSRLIMHSM AMFGREFCYA VEAAYVTPVL 70 80 90 100 110 120 LSVGLPSSLY SIVWFLSPIL GFLLQPVVGS ASDHCRSRWG RRRPYILTLG VMMLVGMALY 130 140 150 160 170 180 LNGATVVAAL IANPRRKLVW AISVTMIGVV LFDFAADFID GPIKAYLFDV CSHQDKEKGL 190 200 210 220 230 240 HYHALFTQTR RAMTLKSLLR ALVNMPPHYR YLCISHLIGW TAFLSNMLFF TDFMGQIVYR 250 260 270 280 290 GDPYSAHNST EFLIYERGVE VGCWGLCINS VFSSLYSCKS FSLLRMSSKS FWSSTTWI
	Isoform 3 (AIM-1c) [UniParc]. Checksum: 4C5632A7C7917BCE	FASTA	471	51,622
	10 20 30 40 50 60 MGSNSGQAGR HIYKSLADDG PFDSVEPPKR PTSRLIMHSM AMFGREFCYA VEAAYVTPVL 70 80 90 100 110 120 LSVGLPSSLY SIVWFLSPIL GFLLQPVVGS ASDHCRSRWG RRRPYILTLG VMMLVGMALY 130 140 150 160 170 180 LNGATVVAGF GGALGYLLGA IDWAHLELGR LLGTEFQVMF FFSALVLTLC FTVHLCSISE 190 200 210 220 230 240 APLTEVAKGI PPQQTPQDPP LSSDGMYEYG SIEKVKNGYV NPELAMQGAK NKNHAEQTRR 250 260 270 280 290 300 AMTLKSLLRA LVNMPPHYRY LCISHLIGWT AFLSNMLFFT DFMGQIVYRG DPYSAHNSTE 310 320 330 340 350 360 FLIYERGVEV GCWGLCINSV FSSLYSYFQK VLVSYIGLKG LYFTGYLLFG LGTGFIGLFP 370 380 390 400 410 420 NVYSTLVLCS LFGVMSSTLY TVPFNLITEY HREEEKERQQ APGGDPDNSV RGKGMDCATL 430 440 450 460 470 TCMVQLAQIL VGGGLGFLVN TAGTVVVVVI TASAVALIGC CFVALFVRYV D
	Isoform 4 [UniParc]. Checksum: 2C30B5DAE98C19BD	FASTA	460	51,200
	10 20 30 40 50 60 MGSNSGQAGR HIYKSLADDG PFDSVEPPKR PTSRLIMHSM AMFGREFCYA VEAAYVTPVL 70 80 90 100 110 120 LSVGLPSSLY SIVWFLSPIL GFLLQPVVGS ASDHCRSRWG RRRPYILTLG VMMLVGMALY 130 140 150 160 170 180 LNGATVVAAL IANPRRKLVW AISVTMIGVV LFDFAADFID GPIKAYLFDV CSHQDKEKGL 190 200 210 220 230 240 HYHALFTGFG GALGYLLGAI DWAHLELGRL LGTEFQVMFF FSALVLTLCF TVHLCSISEA 250 260 270 280 290 300 PLTEVAKGIP PQQTPQDPPL SSDGMYEYGS IEKVKNGYVN PELAMQGAKN KNHAEQTRRA 310 320 330 340 350 360 MTLKSLLRAL VNMPPHYRYL CISHLIGWTA FLSNMLFFTD FMGQIVYRGD PYSAHNSTEF 370 380 390 400 410 420 LIYERGVEVG CWGLCINSVF SSLYSYFQKV LVSYIGLKGL YFTGYLLFGL GTGFIGLFPN 430 440 450 460 VYSTLVLCSL FGVMSSTLYT VPFNLITEYH REEEKEVCCH

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Use of an in vitro immunoselected tumor line to identify shared melanoma antigens recognized by HLA-A*0201-restricted T cells." Harada M., Li Y.F., El-Gamil M., Rosenberg S.A., Robbins P.F. Cancer Res. 61:1089-1094(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT PHE-374. Tissue: Melanoma.
[2]	"The DNA sequence and comparative analysis of human chromosome 5." Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S. , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M. Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 4), VARIANT PHE-374. Tissue: Skin.
[4]	"Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes." Chi A., Valencia J.C., Hu Z.-Z., Watabe H., Yamaguchi H., Mangini N.J., Huang H., Canfield V.A., Cheng K.C., Yang F., Abe R., Yamagishi S., Shabanowitz J., Hearing V.J., Wu C., Appella E., Hunt D.F. J. Proteome Res. 5:3135-3144(2006) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. Tissue: Melanoma.
[5]	"Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4." Newton J.M., Cohen-Barak O., Hagiwara N., Gardner J.M., Davisson M.T., King R.A., Brilliant M.H. Am. J. Hum. Genet. 69:981-988(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT PHE-374, INVOLVEMENT IN OCA4.
[6]	"Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan." Inagaki K., Suzuki T., Shimizu H., Ishii N., Umezawa Y., Tada J., Kikuchi N., Takata M., Takamori K., Kishibe M., Tanaka M., Miyamura Y., Ito S., Tomita Y. Am. J. Hum. Genet. 74:466-471(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS OCA4 SER-58; ASN-157 AND VAL-188, VARIANTS LYS-272; PRO-500 AND LEU-507.
[7]	"Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4." Rundshagen U., Zuehlke C., Opitz S., Schwinger E., Kaesmann-Kellner B. Hum. Mutat. 23:106-110(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS OCA4 ALA-58; CYS-202; PHE-221 DEL; CYS-317; PRO-361; THR-477 AND VAL-486, VARIANTS LYS-272 AND PHE-374.
[8]	"MATP polymorphisms in Germans and Japanese: the L374F mutation as a population marker for Caucasoids." Yuasa I., Umetsu K., Watanabe G., Nakamura H., Endoh M., Irizawa Y. Int. J. Legal Med. 118:364-366(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS LYS-272; PHE-374 AND LEU-507.
[9]	"A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene." Suzuki T., Inagaki K., Fukai K., Obana A., Lee S.-T., Tomita Y. Br. J. Dermatol. 152:174-175(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT OCA4 ASN-157.
[10]	"Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation." Graf J., Hodgson R., van Daal A. Hum. Mutat. 25:278-284(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS LYS-272 AND PHE-374.
[11]	"Distribution of the F374 allele of the SLC45A2 (MATP) gene and founder-haplotype analysis." Yuasa I., Umetsu K., Harihara S., Kido A., Miyoshi A., Saitou N., Dashnyam B., Jin F., Lucotte G., Chattopadhyay P.K., Henke L., Henke J. Ann. Hum. Genet. 70:802-811(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT PHE-374.
[12]	"A genomewide association study of skin pigmentation in a South Asian population." Stokowski R.P., Pant P.V.K., Dadd T., Fereday A., Hinds D.A., Jarman C., Filsell W., Ginger R.S., Green M.R., van der Ouderaa F.J., Cox D.R. Am. J. Hum. Genet. 81:1119-1132(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT PHE-374, ASSOCIATION WITH SHEP5.
[13]	"SLC45A2 variations in Indian oculocutaneous albinism patients." Sengupta M., Chaki M., Arti N., Ray K. Mol. Vis. 13:1406-1411(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS OCA4 ILE-42; SER-64; ASN-157; SER-302 AND CYS-348, VARIANTS LYS-272 AND PHE-374.
+	Additional computationally mapped references.

Web resources

Mutations of the MATP gene

Retina International's Scientific Newsletter

Albinism database (ADB)

SLC45A2 mutations

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF172849 mRNA. Translation: AAD51812.1. AC139777 Genomic DNA. No translation available. AC139783 Genomic DNA. No translation available. BC003597 mRNA. Translation: AAH03597.1. Frameshift. BC064405 mRNA. Translation: AAH64405.1.
IPI	IPI00219552. IPI00299427. IPI00413233. IPI00554732.
RefSeq	NP_001012527.1. NM_001012509.2. NP_057264.3. NM_016180.3.
UniGene	Hs.278962.
3D structure databases
ProteinModelPortal	Q9UMX9.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000296589.
PTM databases
PhosphoSite	Q9UMX9.
Polymorphism databases
DMDM	145572854.
Proteomic databases
PaxDb	Q9UMX9.
PRIDE	Q9UMX9.
Protocols and materials databases
DNASU	51151.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000296589; ENSP00000296589; ENSG00000164175. ENST00000342059; ENSP00000341014; ENSG00000164175. ENST00000382102; ENSP00000371534; ENSG00000164175.
GeneID	51151.
KEGG	hsa:51151.
UCSC	uc003jid.3. human. uc003jie.3. human.
Organism-specific databases
CTD	51151.
GeneCards	GC05M033981.
HGNC	HGNC:16472. SLC45A2.
MIM	227240. phenotype. 606202. gene. 606574. phenotype.
neXtProt	NX_Q9UMX9.
Orphanet	79435. Oculocutaneous albinism type 4.
PharmGKB	PA134897756.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG317436.
HOGENOM	HOG000128553.
HOVERGEN	HBG018570.
InParanoid	Q9UMX9.
KO	K15378.
OMA	MGGNSGQ.
OrthoDB	EOG4XSKPS.
Gene expression databases
ArrayExpress	Q9UMX9.
Bgee	Q9UMX9.
CleanEx	HS_AIM1. HS_SLC45A2.
Genevestigator	Q9UMX9.
GermOnline	ENSG00000164175. Homo sapiens.
Family and domain databases
InterPro	IPR016196. MFS_dom_general_subst_transpt. [Graphical view]
SUPFAM	SSF103473. MFS_gen_substrate_transporter. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	51151.
NextBio	54040.
SOURCE	Search...

Entry information

Entry name

S45A2_HUMAN

Accession

Primary (citable) accession number: Q9UMX9
Secondary accession number(s): Q6P2P0, Q9BTM3

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 16, 2001
Last sequence update:	March 6, 2007
Last modified:	May 1, 2013
This is version 113 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.