ID Q6LEE2_HUMAN Unreviewed; 43 AA. AC Q6LEE2; DT 05-JUL-2004, integrated into UniProtKB/TrEMBL. DT 05-JUL-2004, sequence version 1. DT 27-MAR-2024, entry version 79. DE SubName: Full=4a-carbinolamine dehydratase {ECO:0000313|EMBL:AAA35670.1}; DE Flags: Fragment; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606 {ECO:0000313|EMBL:AAA35670.1}; RN [1] {ECO:0000313|EMBL:AAA35670.1} RP NUCLEOTIDE SEQUENCE. RC TISSUE=Blood {ECO:0000313|EMBL:AAA35670.1}; RX PubMed=8352282; RA Citron B.A., Kaufman S., Milstien S., Naylor E.W., Greene C.L., Davis M.D.; RT "Mutation in the 4a-carbinolamine dehydratase gene leads to mild RT hyperphenylalaninemia with defective cofactor metabolism."; RL Am. J. Hum. Genet. 53:768-774(1993). CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; L15410; AAA35670.1; -; Genomic_DNA. DR AlphaFoldDB; Q6LEE2; -. DR PeptideAtlas; Q6LEE2; -. DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell. DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell. DR GO; GO:0008124; F:4-alpha-hydroxytetrahydrobiopterin dehydratase activity; IEA:UniProtKB-EC. DR GO; GO:0006729; P:tetrahydrobiopterin biosynthetic process; IEA:UniProtKB-KW. DR Gene3D; 3.30.1360.20; Transcriptional coactivator/pterin dehydratase; 1. DR InterPro; IPR036428; PCD_sf. DR SUPFAM; SSF55248; PCD-like; 1. PE 4: Predicted; FT NON_TER 1 FT /evidence="ECO:0000313|EMBL:AAA35670.1" FT NON_TER 43 FT /evidence="ECO:0000313|EMBL:AAA35670.1" SQ SEQUENCE 43 AA; 5111 MW; AF402223C50AF4EF CRC64; GKAHRLSAEE RDQLLPNLRA VGWNELEGRD AIFKQFHFKD FNR //