Gene: [0Xp2232/ARSE] arylsulfatase E; chondrodysplasia punctata 1 (X-linked recessive; MIM:302940);
FAG | On Y-linked homolog of ARSE see GEM:0Yq11/ARSEP. |
CAG | [1] Two forms of X-linked chondrodysplasia punctata (CP) are
known, the recessive and dominant ones (see GEM:0X^/CDPX2). [2] In addition to X-linked CP, autosomal dominant (dystrophia calcificans punctata, Conradi-Hunermann form; MIM:118650) and autosomal recessive (chondrodystrophia calcificans punctata, rhizomelic form; CDPR; MIM:215100) forms have been described. See also MIM:602497: chondrodysplasia punctata, brachytelephalangic." |
PSG | GEM:0Yq11/ARSEP. |
REF | LOC,LIN,MAP "Ballabio A &: CCG, 51, (HGM10), 957, 1989 LOC,LIN,MAP "Ballabio A &: Clin Genet, 34, 31-37, 1988 LOC "Curry &: New Engl J Med, 311, 1010-1015, 1984 CLO,SEQ,GEN,LOC,MUT "Franco B &: Cell, 81, 15-25, 1995 CLO,SEQ,GEN,MAP "Meroni G &: Hum Mol Genet, 5, 423-431, 1996 PHE,PAT,REV "Wettke-Schafer, Kantner: Hum Genet, 64, 1-23, 1983 |
SWI | SWISSPROT: P51690 |
KEY | bone, derm, eye |
CLA | coding, basic |
LOC | 0X p22.32 |
MIM | MIM: 302950 |
EZN | ENZYME: 3.1.6.? |
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