Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Transmembrane protein 237

The TMEM237 gene encodes a transmembrane protein which is involved in WNT signaling. Mutations cause Joubert syndrome 14.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 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 14
TMEM237

References:

1.

Chong JX et al. (2012) A population-based study of autosomal-recessive disease-causing mutations in a founder population.

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2.

Janecke AR et al. (2004) Joubert-like syndrome unlinked to known candidate loci.

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3.

Boycott KM et al. (2007) Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome.

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4.

Huang L et al. (2011) TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.

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5.

Zuniga FI et al. (2010) Deciphering the structure and function of Als2cr4 in the mouse retina.

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6.

NCBI article

NCBI 65062 [^]
7.

OMIM.ORG article

Omim 614423 [^]
8.

Orphanet article

Orphanet ID 286631 [^]
Update: April 29, 2019