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.
Immunogen Information
Immunogen
Fusion protein of human MKS1
Swissprot
Q9NXB0
Synonyms
B8d3BBS13Dysencephalia splanchnocysticaFABB proteome like proteinFLJ20345Gruber syndromeMeckel gruber syndromeMeckel gruber syndrome type 1Meckel syndromeMeckel syndrome type 1Meckel syndrome type 1 proteinMeckel syndrome type 1 protein homolog