Gene Symbol | TMEM138 |
Entrez Gene ID | 51524 |
Full Name | transmembrane protein 138 |
Synonyms | HSPC196 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a multi-pass transmembrane protein. Reduced expression of this gene in mouse fibroblasts causes short cilia and failure of ciliogenesis. Expression of this gene is tightly coordinated with expression of the neighboring gene TMEM216. Mutations in this gene are associated with the autosomal recessive neurodevelopmental disorder Joubert Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]. |
Disorder MIM: | |
Disorder Html: | Joubert syndrome 16, 614465 (3) |