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Search results 1 to 1 out of 1 for Tmem237

Category restricted to ProteinDomain (x)

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Category: ProteinDomain
Type Details Score
Protein Domain
Type: Family
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.