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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for MKS1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID54903
Official gene symbolMKS1
Full nameMeckel syndrome, type 1
Aliases,BBS13,FLJ20345,MES,MKS,POC12,
Gene summaryThe 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]
LocationChromosome: 17   Locus: 17q22
Gene position56296966 - 56282797  Map Viewer
Gene orientationminus
Gene size14170 bp
Gene sequence
OMIM ID609883