Transmembrane protein 216
The TMEM216 gene encodes a transmembraneous protein involved in cilia assambly. Mutations cause autosomal recessive Joubert syndrome 2 and Meckel syndrome 2.
Genetests:
Related Diseases:
References:
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Valente EM et al. (2010) Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.
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2. |
Lee JH et al. (2012) Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.
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3. |
Edvardson S et al. (2010) Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.
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4. |
Orphanet article
Orphanet ID 221342
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5. |
NCBI article
NCBI 51259
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6. |
OMIM.ORG article
Omim 613277
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7. |
Wikipedia article
Wikipedia EN (TMEM216)
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Update: Aug. 14, 2020