Entrez gene ID | | 51119 |
Official gene symbol | | SBDS |
Full name | | Shwachman-Bodian-Diamond syndrome |
Aliases | | ,CGI-97,FLJ10917,SDS,SWDS, |
Gene summary | | This gene encodes a member of a highly conserved protein family that exists from archaea to vertebrates and plants. The encoded protein may function in RNA metabolism. Mutations within this gene are associated with Shwachman-Bodian-Diamond syndrome. An alternative transcript has been described, but its biological nature has not been determined. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq] |
Location | | Chromosome: 7 Locus: 7q11.21 |
Gene position | | 66460588 - 66452690 Map Viewer |
Gene orientation | | minus |
Gene size | | 7899 bp |
Gene sequence |
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OMIM ID | | 607444 |