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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