Q14690 (RRP5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein RRP5 homolog

Alternative name(s):
NF-kappa-B-binding protein
Short name=NFBP
Programmed cell death protein 11

Gene names

Name:	PDCD11
Synonyms:	KIAA0185

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	1871 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Essential for the generation of mature 18S rRNA, specifically necessary for cleavages at sites A0, 1 and 2 of the 47S precursor. Directly interacts with U3 snoRNA. Ref.9 Involved in the biogenesis of rRNA By similarity. Ref.9
Subunit structure	Interacts with NF-kappa-B p50/NFKB1 and NF-kappa-B p65/RELA. Ref.8
Subcellular location	Nucleus › nucleolus Ref.7 Ref.8 Ref.9.
Sequence similarities	Contains 4 HAT repeats. Contains 12 S1 motif domains.
Sequence caution	The sequence AAG01992.1 differs from that shown. Reason: Erroneous translation. Wrong choice of frame. The sequence AAH49838.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence. The sequence AAH64486.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence. The sequence AAH80560.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence. The sequence AAI11041.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence. The sequence BAA11502.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	rRNA processing
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Domain	Repeat
PTM	Acetylation Phosphoprotein
Technical term	3D-structure Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	mRNA processing Inferred from electronic annotation. Source: InterPro rRNA processing Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	cytosol Inferred from electronic annotation. Source: Compara nucleolus Inferred from electronic annotation. Source: UniProtKB-SubCell nucleus Inferred from direct assay Ref.8. Source: UniProtKB
Molecular_function	RNA binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
NFKB1	P19838	2	EBI-300028,EBI-300010

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Initiator methionine

1

1

Removed Ref.5

Chain

2 – 1871

1870

Protein RRP5 homolog

PRO_0000205762

Regions

Domain

83 – 171

89

S1 motif 1

Domain

187 – 258

72

S1 motif 2

Domain

281 – 346

66

S1 motif 3

Domain

365 – 436

72

S1 motif 4

Domain

453 – 522

70

S1 motif 5

Domain

542 – 611

70

S1 motif 6

Domain

636 – 707

72

S1 motif 7

Domain

729 – 798

70

S1 motif 8

Domain

1036 – 1109

74

S1 motif 9

Domain

1149 – 1222

74

S1 motif 10

Domain

1230 – 1298

69

S1 motif 11

Domain

1324 – 1396

73

S1 motif 12

Repeat

1599 – 1631

33

HAT 1

Repeat

1705 – 1737

33

HAT 2

Repeat

1775 – 1807

33

HAT 3

Repeat

1809 – 1844

36

HAT 4

Amino acid modifications

Modified residue

2

1

N-acetylalanine Ref.5

Modified residue

1360

1

Phosphoserine Ref.14

Modified residue

1362

1

Phosphoserine Ref.14

Modified residue

1493

1

Phosphoserine Ref.11

Modified residue

1498

1

Phosphoserine Ref.10 Ref.11

Natural variations

Natural variant

397

1

S → N.
Corresponds to variant rs7074814 [ dbSNP | Ensembl ].

VAR_054485

Natural variant

623

1

A → S.
Corresponds to variant rs11598673 [ dbSNP | Ensembl ].

VAR_031669

Natural variant

780

1

A → S.
Corresponds to variant rs11591914 [ dbSNP | Ensembl ].

VAR_054486

Natural variant

1216

1

L → F. Ref.1 Ref.4
Corresponds to variant rs2986014 [ dbSNP | Ensembl ].

VAR_031670

Natural variant

1453

1

P → S.
Corresponds to variant rs2274289 [ dbSNP | Ensembl ].

VAR_054487

Natural variant

1871

1

D → A. Ref.6
Corresponds to variant rs7831 [ dbSNP | Ensembl ].

VAR_014930

Experimental info

Sequence conflict

1431

1

Missing in AAH49838. Ref.4

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

1871

Helix Strand Turn

Details...

Turn

181 – 183

3

Beta strand

189 – 197

9

Beta strand

199 – 205

7

Beta strand

212 – 216

5

Helix

217 – 227

11

Beta strand

228 – 230

3

Beta strand

238 – 245

8

Beta strand

252 – 256

5

Sequences

	Sequence		Length	Mass (Da)
	Q14690 [UniParc]. Last modified April 17, 2007. Version 3. Checksum: 8ED3665EB503CBB0	FASTA	1,871	208,701
	10 20 30 40 50 60 MANLEESFPR GGTRKIHKPE KAFQQSVEQD NLFDISTEEG STKRKKSQKG PAKTKKLKIE 70 80 90 100 110 120 KRESSKSARE KFEILSVESL CEGMRILGCV KEVNELELVI SLPNGLQGFV QVTEICDAYT 130 140 150 160 170 180 KKLNEQVTQE QPLKDLLHLP ELFSPGMLVR CVVSSLGITD RGKKSVKLSL NPKNVNRVLS 190 200 210 220 230 240 AEALKPGMLL TGTVSSLEDH GYLVDIGVDG TRAFLPLLKA QEYIRQKNKG AKLKVGQYLN 250 260 270 280 290 300 CIVEKVKGNG GVVSLSVGHS EVSTAIATEQ QSWNLNNLLP GLVVKAQVQK VTPFGLTLNF 310 320 330 340 350 360 LTFFTGVVDF MHLDPKKAGT YFSNQAVRAC ILCVHPRTRV VHLSLRPIFL QPGRPLTRLS 370 380 390 400 410 420 CQNLGAVLDD VPVQGFFKKA GATFRLKDGV LAYARLSHLS DSKNVFNPEA FKPGNTHKCR 430 440 450 460 470 480 IIDYSQMDEL ALLSLRTSII EAQYLRYHDI EPGAVVKGTV LTIKSYGMLV KVGEQMRGLV 490 500 510 520 530 540 PPMHLADILM KNPEKKYHIG DEVKCRVLLC DPEAKKLMMT LKKTLIESKL PVITCYADAK 550 560 570 580 590 600 PGLQTHGFII RVKDYGCIVK FYNNVQGLVP KHELSTEYIP DPERVFYTGQ VVKVVVLNCE 610 620 630 640 650 660 PSKERMLLSF KLSSDPEPKK EPAGHSQKKG KAINIGQLVD VKVLEKTKDG LEVAVLPHNI 670 680 690 700 710 720 RAFLPTSHLS DHVANGPLLH HWLQAGDILH RVLCLSQSEG RVLLCRKPAL VSTVEGGQDP 730 740 750 760 770 780 KNFSEIHPGM LLIGFVKSIK DYGVFIQFPS GLSGLAPKAI MSDKFVTSTS DHFVEGQTVA 790 800 810 820 830 840 AKVTNVDEEK QRMLLSLRLS DCGLGDLAIT SLLLLNQCLE ELQGVRSLMS NRDSVLIQTL 850 860 870 880 890 900 AEMTPGMFLD LVVQEVLEDG SVVFSGGPVP DLVLKASRYH RAGQEVESGQ KKKVVILNVD 910 920 930 940 950 960 LLKLEVHVSL HQDLVNRKAR KLRKGSEHQA IVQHLEKSFA IASLVETGHL AAFSLTSHLN 970 980 990 1000 1010 1020 DTFRFDSEKL QVGQGVSLTL KTTEPGVTGL LLAVEGPAAK RTMRPTQKDS ETVDEDEEVD 1030 1040 1050 1060 1070 1080 PALTVGTIKK HTLSIGDMVT GTVKSIKPTH VVVTLEDGII GCIHASHILD DVPEGTSPTT 1090 1100 1110 1120 1130 1140 KLKVGKTVTA RVIGGRDMKT FKYLPISHPR FVRTIPELSV RPSELEDGHT ALNTHSVSPM 1150 1160 1170 1180 1190 1200 EKIKQYQAGQ TVTCFLKKYN VVKKWLEVEI APDIRGRIPL LLTSLSFKVL KHPDKKFRVG 1210 1220 1230 1240 1250 1260 QALRATVVGP DSSKTLLCLS LTGPHKLEEG EVAMGRVVKV TPNEGLTVSF PFGKIGTVSI 1270 1280 1290 1300 1310 1320 FHMSDSYSET PLEDFVPQKV VRCYILSTAD NVLTLSLRSS RTNPETKSKV EDPEINSIQD 1330 1340 1350 1360 1370 1380 IKEGQLLRGY VGSIQPHGVF FRLGPSVVGL ARYSHVSQHS PSKKALYNKH LPEGKLLTAR 1390 1400 1410 1420 1430 1440 VLRLNHQKNL VELSFLPGDT GKPDVLSASL EGQLTKQEER KTEAEERDQK GEKKNQKRNE 1450 1460 1470 1480 1490 1500 KKNQKGQEEV EMPSKEKQQP QKPQAQKRGG RECRESGSEQ ERVSKKPKKA GLSEEDDSLV 1510 1520 1530 1540 1550 1560 DVYYREGKEE AEETNVLPKE KQTKPAEAPR LQLSSGFAWN VGLDSLTPAL PPLAESSDSE 1570 1580 1590 1600 1610 1620 EDEKPHQATI KKSKKERELE KQKAEKELSR IEEALMDPGR QPESADDFDR LVLSSPNSSI 1630 1640 1650 1660 1670 1680 LWLQYMAFHL QATEIEKARA VAERALKTIS FREEQEKLNV WVALLNLENM YGSQESLTKV 1690 1700 1710 1720 1730 1740 FERAVQYNEP LKVFLHLADI YAKSEKFQEA GELYNRMLKR FRQEKAVWIK YGAFLLRRSQ 1750 1760 1770 1780 1790 1800 AAASHRVLQR ALECLPSKEH VDVIAKFAQL EFQLGDAERA KAIFENTLST YPKRTDVWSV 1810 1820 1830 1840 1850 1860 YIDMTIKHGS QKDVRDIFER VIHLSLAPKR MKFFFKRYLD YEKQHGTEKD VQAVKAKALE 1870 YVEAKSSVLE D

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1." Nagase T., Seki N., Ishikawa K., Tanaka A., Nomura N. DNA Res. 3:17-24(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT PHE-1216. Tissue: Bone marrow.
[2]	"The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J. Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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] OF 1-1442, VARIANT PHE-1216. Tissue: Lymphoma and Uterus.
[5]	Bienvenut W.V., Matallanas D., Kolch W. Submitted (JUL-2009) to UniProtKB Cited for: PROTEIN SEQUENCE OF 2-10 AND 1343-1352, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT ALA-2, MASS SPECTROMETRY. Tissue: Mammary carcinoma.
[6]	Zhou J., Yu W., Tang H., Mei G., Tsang Y.T.M., Bouck J., Gibbs R.A., Margolin J.F. Submitted (JUL-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1508-1871, VARIANT ALA-1871. Tissue: Brain.
[7]	"Functional proteomic analysis of human nucleolus." Scherl A., Coute Y., Deon C., Calle A., Kindbeiter K., Sanchez J.-C., Greco A., Hochstrasser D.F., Diaz J.-J. Mol. Biol. Cell 13:4100-4109(2002) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[8]	"Identification of a novel protein from glial cells based on its ability to interact with NF-kappaB subunits." Sweet T., Khalili K., Sawaya B.E., Amini S. J. Cell. Biochem. 90:884-891(2003) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH NFKB1 AND RELA, SUBCELLULAR LOCATION.
[9]	"Evidence for involvement of NFBP in processing of ribosomal RNA." Sweet T., Yen W., Khalili K., Amini S. J. Cell. Physiol. 214:381-388(2008) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION.
[10]	"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1498, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[11]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1493 AND SER-1498, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[12]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Leukemic T-cell.
[13]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[14]	"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1360 AND SER-1362, MASS SPECTROMETRY.
[15]	"Solution structure of the S1 RNA binding domain from human hypothetical protein BAA11502." RIKEN structural genomics initiative (RSGI) Submitted (NOV-2004) to the PDB data bank Cited for: STRUCTURE BY NMR OF 173-278.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

D80007 mRNA. Translation: BAA11502.1. Different initiation.
AL139339, AL591408, AL603983 Genomic DNA. Translation: CAH71487.1.
AL591408, AL139339, AL603983 Genomic DNA. Translation: CAI16749.1.
AL603983, AL139339, AL591408 Genomic DNA. Translation: CAI15102.1.
CH471066 Genomic DNA. Translation: EAW49641.1.
BC049838 mRNA. Translation: AAH49838.1. Sequence problems.
BC064486 mRNA. Translation: AAH64486.1. Sequence problems.
BC080560 mRNA. Translation: AAH80560.1. Sequence problems.
BC111040 mRNA. Translation: AAI11041.1. Sequence problems.
AY007124 mRNA. Translation: AAG01992.1. Sequence problems.

IPI

IPI00400922.

RefSeq

NP_055791.1. NM_014976.1.

UniGene

Hs.239499.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1WI5	NMR	-	A	173-278	[»]

ProteinModelPortal

Q14690.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q14690. 4 interactions.

MINT

MINT-1388150.

STRING

9606.ENSP00000358812.

PTM databases

PhosphoSite

Q14690.

Polymorphism databases

DMDM

145559523.

2D gel databases

SWISS-2DPAGE

Q14690.

Proteomic databases

PaxDb

Q14690.

PRIDE

Q14690.

Protocols and materials databases

DNASU

22984.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000369797; ENSP00000358812; ENSG00000148843.

GeneID

22984.

KEGG

hsa:22984.

UCSC

uc001kwy.1. human.

Organism-specific databases

CTD

22984.

GeneCards

GC10P105156.

H-InvDB

HIX0009176.

HGNC

HGNC:13408. PDCD11.

HPA

CAB026472.
HPA017924.

MIM

612333. gene.

neXtProt

NX_Q14690.

PharmGKB

PA134909758.

HUGE

Search...

GenAtlas

Search...

Phylogenomic databases

eggNOG

COG0539.

HOGENOM

HOG000088607.

HOVERGEN

HBG108419.

InParanoid

Q14690.

KO

K14792.

OMA

LHLADIY.

OrthoDB

EOG4XKV63.

PhylomeDB

Q14690.

Gene expression databases

Bgee

Q14690.

CleanEx

HS_PDCD11.

Genevestigator

Q14690.

GermOnline

ENSG00000148843. Homo sapiens.

Family and domain databases

Gene3D

1.25.40.10. 1 hit.
2.40.50.140. 11 hits.

InterPro

IPR003107. HAT.
IPR012340. NA-bd_OB-fold.
IPR003029. Rbsml_prot_S1_RNA-bd_dom.
IPR022967. RNA-binding_domain_S1.
IPR008847. Suf.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical.
[Graphical view]

Pfam

PF00575. S1. 5 hits.
PF05843. Suf. 1 hit.
[Graphical view]

SMART

SM00386. HAT. 7 hits.
SM00316. S1. 13 hits.
[Graphical view]

SUPFAM

SSF50249. Nucleic_acid_OB. 12 hits.

PROSITE

PS50126. S1. 12 hits.
[Graphical view]

ProtoNet

Search...

Other

ChiTaRS

PDCD11. human.

EvolutionaryTrace

Q14690.

GenomeRNAi

22984.

NextBio

43819.

SOURCE

Search...

Entry information

Entry name

RRP5_HUMAN

Accession

Primary (citable) accession number: Q14690
Secondary accession number(s): Q2TA92 , Q5W093, Q6P2J3, Q86VQ8, Q9H4P1

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	April 17, 2007
Last modified:	May 1, 2013
This is version 121 of the entry and version 3 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.