Transmembrane protein 107
This gene encodes a transmembrane protein and component of the primary cilia transition zone. The encoded protein regulates ciliogenesis and ciliary protein composition. Human fibroblasts expressing a mutant allele of this gene exhibit reduced numbers of cilia, altered cilia length, and impaired sonic hedgehog signaling. In human patients, different mutations in this gene cause different ciliopathies, including Meckel-Gruber syndrome and orofaciodigital syndrome. [provided by RefSeq, May 2017]
Genetests:
Related Diseases:
References:
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Christopher KJ et al. (2012) Forward genetics uncovers Transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling.
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2. |
Shaheen R et al. (2015) Identification of a novel MKS locus defined by TMEM107 mutation.
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3. |
Lambacher NJ et al. (2016) TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.
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4. |
Shylo NA et al. (2016) TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome.
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5. |
Orphanet article
Orphanet ID 471232
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6. |
NCBI article
NCBI 84314
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7. |
OMIM.ORG article
Omim 616183
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Update: Aug. 14, 2020