Gene Symbol | TMEM107 |
Entrez Gene ID | 84314 |
Full Name | transmembrane protein 107 |
Synonyms | GRVS638,JBTS29,MKS13,PRO1268 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Meckel syndrome 13, 617562 (3); ?Joubert syndrome 29, 617562 (3); Orofaciodigital syndrome XVI, 617563 (3) |