MKS1

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]

Description

MKS transition zone complex subunit 1

Protein family

Disease related genes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Predicted intracellular proteins, Protein evidence (Peptideatlas)

Chromosome

17:q22 (58205441 - 58219605)

Ensembl ID

ENSG00000011143  (ver. 99.38)

Orthologs

Mouse Mks1: ENSMUSG00000034121

UniProt

Q9NXB0

neXtProt

NX_Q9NXB0

Human splice variants
Mouse splice variants