Gene: [20q112/CDMP1] cartilage-derived morphogenic protein 1; growth differentiation factor 5; bone morphogenetic protein 9; acromesomelic chondrodysplasia, Hunter-Thompson type (MIM:201250); acromesomelic chondrodysplasia, Grebe type (MIM:200700); brachydactyly, type C, autosomal dominant; [GDF5 BMP9 ]

CAG

About another acromesomelic chondrodysplasia (Maroteaux type) see GEM:09^/AMDM,

REL

GEM:00.0/CDMP2.

REF

CLO,SEQ "Chang SC &: JBC, 269, 28227-28234, 1994
CLO,SEQ "Hoetten G &: BBRC, 204, 646-652, 1994
LOC "Lin K &: Genomics, 34, N1, 150-151, 1996
MUT "Polinkovsky A &: Nature Genet, 17, N1, 18-19, 1997
MUT "Robin NH &: Am J Med Genet, 68, N3, 369-377, 1997
MUT "Thomas JT &: Nature Genet, 17, N1, 58-64, 1997
MUT "Thomas JT &: Nature Genet, 12, 315-317, 1996

SWI

SWISSPROT: P43026

KEY

bone, ont

CLA

coding, basic

LOC

20 q11.2

MIM

MIM: 601146

SYN

GDF5 BMP9

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