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MKS1

Official Full Name
MKS transition zone complex subunit 1
Organism
Homo sapiens
GeneID
54903
Background
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]
Synonyms
MES; MKS; BBS13; POC12; JBTS28;

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