Gene: [09p23/TYRP1] 5,6-dihydroxyindole-2-carboxylic acid oxidase; tyrosinase-related protein 1 (catalase B; glycoprotein-75); albinism, oculocutaneous, type III (brown oculocutaneous albinism; OCA3; MIM:203290); xanthism (rufous oculocutaneous albinism; MIM:278400);
GEN | The gene length: 24 kb (or more); exons: 7 (Sturm-1995). |
REL | GEM:11p13/CAT; GEM:11q21/TYR; GEM:13q32/DCT. |
REF | LOC "Abbott CA &:
Genomics, 11, N2, 471-473, 1991 MUT,EXP,PAT "Boissy RE &: AJHG, 58, N6, 1145-1156, 1996 POL "Box NF &: Hum Mol Genet, 3, N12, 2270, 1994 LOC "Chintamaneni CD &: BBRC, 178, 227-235, 1991 MUT,PAT "Manga P &: AJHG, 61, N5, 1095-1101, 1997 LOC "Murty VV &: Genomics, 13, 227-229, 1992 MAP,MOU "Pilz A &: Genomics, 25, N1, 139-149, 1995 LOC "Ramsay &: CCG, 58, (HGM11), 1943, 1991 CLO,SEQ,GEN "Sturm RA &: Genomics, 29, N1, 24-34, 1995 POL "Wildenberg SC &: Hum Genet, 95, N2, 247, 1995 |
SWI | SWISSPROT: P17643 |
KEY | aac, mem, pigm |
CLA | coding, basic |
LOC | 09 p23 |
MIM | MIM: 115501 |
EZN | ENZYME: 1.14.18.? |
