| Primary Identifier | IPR029409 | Type | Family |
| Short Name | TMEM237 |
| 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 []. Loss of the mammalian TMEM237 results in defective ciliogenesis and deregulation of Wnt signaling []. 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. |
