Transmembrane protein 237
The TMEM237 gene encodes a transmembrane protein which is involved in WNT signaling. Mutations cause Joubert syndrome 14.
Genetests:
Related Diseases:
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
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7. |
OMIM.ORG article
Omim 614423
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8. |
Orphanet article
Orphanet ID 286631
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Update: Aug. 14, 2020