Entrez gene ID | | 8195 |
Official gene symbol | | MKKS |
Full name | | McKusick-Kaufman syndrome |
Aliases | | ,BBS6,HMCS,KMS,MKS, |
Gene summary | | This gene encodes a protein with sequence similarity to the chaperonin family. The encoded protein may have a role in protein processing in limb, cardiac and reproductive system development. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6 and McKusick-Kaufman syndrome. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq] |
Location | | Chromosome: 20 Locus: 20p12 |
Gene position | | 10414866 - 10385832 Map Viewer |
Gene orientation | | minus |
Gene size | | 29035 bp |
Gene sequence |
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OMIM ID | | 604896 |
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