| Tag | Content |
|---|---|
| Uniprot ID | P00439; Q16717; Q8TC14; |
| Entrez ID | 5053 |
| Genbank protein ID | AAD13926.1; AAC51772.1; AAH26251.1; AAA60082.1; |
| Genbank nucleotide ID | NM_000277.1 |
| Ensembl protein ID | ENSP00000448059 |
| Ensembl nucleotide ID | ENSG00000171759 |
| Gene name | Phenylalanine-4-hydroxylase |
| Gene symbol | PAH |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | CL/P |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 24606907 |
| Functional description | Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine. |
| Sequence | MSTAVLENPG LGRKLSDFGQ ETSYIEDNCN QNGAISLIFS LKEEVGALAK VLRLFEENDV 60 NLTHIESRPS RLKKDEYEFF THLDKRSLPA LTNIIKILRH DIGATVHELS RDKKKDTVPW 120 FPRTIQELDR FANQILSYGA ELDADHPGFK DPVYRARRKQ FADIAYNYRH GQPIPRVEYM 180 EEEKKTWGTV FKTLKSLYKT HACYEYNHIF PLLEKYCGFH EDNIPQLEDV SQFLQTCTGF 240 RLRPVAGLLS SRDFLGGLAF RVFHCTQYIR HGSKPMYTPE PDICHELLGH VPLFSDRSFA 300 QFSQEIGLAS LGAPDEYIEK LATIYWFTVE FGLCKQGDSI KAYGAGLLSS FGELQYCLSE 360 KPKLLPLELE KTAIQNYTVT EFQPLYYVAE SFNDAKEKVR NFAATIPRPF SVRYDPYTQR 420 IEVLDNTQQL KILADSINSE IGILCSALQK IK 452 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.