Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Transmembrane protein 231

The TMEM231 gene encodes a transmembrane protein that is involved in the formation of a diffusion barrier between cytoplasm and cilium. Mutations cause autosomal recessive Meckel syndrome 11 and Joubert syndrome 20.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Joubert syndrome 20
TMEM231
Meckel syndrome 11
TMEM231

References:

1.

Chih B et al. (2011) A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain.

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2.

Srour M et al. (2012) Mutations in TMEM231 cause Joubert syndrome in French Canadians.

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3.

Shaheen R et al. (2013) Mutations in TMEM231 cause Meckel-Gruber syndrome.

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4.

NCBI article

NCBI 79583 [^]
5.

OMIM.ORG article

Omim 614949 [^]
6.

Orphanet article

Orphanet ID 321364 [^]
Update: April 29, 2019