Recombinant Human Meckel syndrome type 1 protein (MKS1)

Uniprot Id

Q9NXB0

Target Species

Human

Target Name

MKS1

Target Full Name

Tectonic-like complex member MKS1

Target Function

Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology.

Target Involvement

Meckel syndrome 1 (MKS1); Bardet-Biedl syndrome 13 (BBS13); Joubert syndrome 28 (JBTS28)

Target Subcellular Location

Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.

Target Synonyms

B8d3; BBS13; Dysencephalia splanchnocystica; FABB proteome like protein; FLJ20345; Gruber syndrome; Meckel gruber syndrome; Meckel gruber syndrome type 1; Meckel syndrome; Meckel syndrome type 1; Meckel syndrome type 1 protein; Meckel syndrome type 1 protein homolog; MES; MKS 1; MKS; Mks1; MKS1_HUMAN; POC12; POC12 centriolar protein homolog

Target 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.