Gene: [0Xp2232/ARSC1] arylsulfatase C, S isozyme (slow form); steroid sulfatase, microsomal; ichthyosis X-linked (steroid sulfatase deficiency);
FAG | [1] On
Y-linked homolog of ARSC1 (or STS) see GEM:0Yq11/ARSC1P. [2] About isozyme F of arylsulfatase C see GEM:0X^/ARSC2." |
FUN | Systematic name: steryl-sulfate sulfohydrolase. Catalyzes reaction: 3-beta-hydroxyandrost-5-en-17-one 3-sulfate + H(2)O = = 3-beta-hydroxyandrost-5-en-17-one + sulfate." |
REF | LOC,LIN,MAP "Ballabio
A &: CCG, 51, (HGM10), 957, 1989 PRO,LOC "Ballabio A &: PNAS, 84, N13, 4519-4523, 1987 MUT "Basler E &: AJHG, 50, 483-491, 1992 MUT "Bernatowicz LF &: Genomics, 13, 892-893, 1992 PRO,MUT "Bonifas JM &: PNAS, 84, N24, 9248-9251, 1987 LOC,LIN,FAG "Chang &: AJHG, 46, 729-737, 1990 PRO,MUT "Conary JT &: BBRC, 144, 1010-1017, 1987 PRO,LOC "Gillard EF &: NAR, 15, 3977-3985, 1987 PHE,PND "Hardardottir &: Clin Genet, 35, N3, 224, 1989 MAP "Mondelo &: Ann Hum Genet, 51, 137-143, 1987 ASS,HET "Robledo R &: Am J Med Genet, 59, 143-148, 1995 MAP "Yates JR &: Genomics, 1, 52-59, 1987 SEQ,EXP,MUT "Yen PH &: Cell, 49, 443-454, 1987 |
SWI | SWISSPROT: P08842 |
KEY | lip, ster, derm, horm |
CLA | coding, basic |
LOC | 0X p22.32 |
MIM | MIM: 308100 |
EZN | ENZYME: 3.1.6.2 |
Смотрите также:
