TMEM107, Official Symbol TMEM107provided by HGNC Official Full Name transmembrane protein 107provided by HGNC Primary source HGNC:HGNC:28128 See related Ensembl:ENSG00000179029 MIM:616183; AllianceGenome:HGNC:28128 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MKS13; JBTS29; GRVS638; PRO1268 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] Expression Ubiquitous expression in thyroid (RPKM 7.3), bone marrow (RPKM 5.2) and 25 other tissues See more Orthologs mouse all