Gene: LOC105371520
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Type of Gene:
Gene: SNORD118
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Type of Gene:
Gene: TMEM107
Alternate names for this Gene: GRVS638|JBTS29|MKS13|PRO1268
Gene 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.
Gene is located in Chromosome: 17
Location in Chromosome : 17p13.1
Description of this Gene: transmembrane protein 107
Type of Gene: protein-coding