Entrez gene ID | | 54903 |
Official gene symbol | | MKS1 |
Full name | | Meckel syndrome, type 1 |
Aliases | | ,BBS13,FLJ20345,MES,MKS,POC12, |
Gene summary | | The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] |
Location | | Chromosome: 17 Locus: 17q22 |
Gene position | | 56296966 - 56282797 Map Viewer |
Gene orientation | | minus |
Gene size | | 14170 bp |
Gene sequence |
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OMIM ID | | 609883 |
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