Family

Transmembrane protein 237 (IPR029409)

Short name: TMEM237

Family relationships

None.

Description

This entry represents a group of eukaryotic proteins that aid the production of new cilia in ciliogenesis. Mutations in the human protein cause a disease named Joubert syndrome type 14 (JBTS14), which is an autosomal recessive disorder characterised by severe mental retardation, hypotonia, breathing abnormalities in infancy, and dysmorphic facial features [PMID: 22152675]. Loss of the mammalian TMEM237 results in defective ciliogenesis and deregulation of Wnt signaling [PMID: 22152675]. Proteins in this family are typically between 203 and 512 amino acids in length. There are two completely conserved G residues that may be functionally important.

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
Pfam