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 |
