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
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
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.

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

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5.

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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Update: Sept. 26, 2018