Entrez gene ID | | 54808 |
Official gene symbol | | DYM |
Full name | | dymeclin |
Aliases | | ,DMC,FLJ20071,FLJ90130,SMC, |
Gene summary | | This gene encodes a protein which is necessary for normal skeletal development and brain function. Mutations in this gene are associated with two types of recessive osteochondrodysplasia, Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia, which involve both skeletal defects and mental retardation. [provided by RefSeq] |
Location | | Chromosome: 18 Locus: 18q12-q21.1 |
Gene position | | 46987079 - 46570172 Map Viewer |
Gene orientation | | minus |
Gene size | | 416908 bp |
Gene sequence |
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OMIM ID | | 607461 |
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