TMEM231
Homo sapiens
Gene Name: transmembrane protein 231
Aliases: UNQ870/PRO1886, ALYE870, PRO1886
Chromosome No: 16
Chromosome Band: 16q23.1
Genetic Category: Syndromic-Rare single gene variant
Associated Syndrome(s): Joubert syndrome-20
Aliases: UNQ870/PRO1886, ALYE870, PRO1886
Chromosome No: 16
Chromosome Band: 16q23.1
Genetic Category: Syndromic-Rare single gene variant
Associated Syndrome(s): Joubert syndrome-20
Summary Statistics:
ASD Reports: 5
Recent Reports: 0
Annotated variants: 9
Associated CNVs: 7
Evidence score: 2
ASD Reports: 5
Recent Reports: 0
Annotated variants: 9
Associated CNVs: 7
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A compound heterozygous mutation involving the TMEM231 gene was identified in three affected individuals from two families with Joubert syndrome (Srour et al., 2012).
Molecular Function
This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS).
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Mutations in TMEM231 cause Joubert syndrome in French Canadians.
Joubert syndrome-20
DD
Support
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
Meckel-Gruber syndrome
