Gene Symbol | MKS1 |
Entrez Gene ID | 54903 |
Full Name | Meckel syndrome, type 1 |
Synonyms | BBS13,JBTS28,MES,MKS,POC12 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Sep 2009]. |
Disorder MIM: | |
Disorder Html: | Meckel syndrome 1, 249000 (3); Bardet-Biedl syndrome 13, 615990 (3); Joubert syndrome 28, 617121 (3) |