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TMEM138 / HSPC196 is 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.
Gene Name: | transmembrane protein 138 |
Synonyms: | TMEM138, HSPC196, Transmembrane protein 138 |
Target Sequences: | NM_016464 NP_057548.1 Q9NPI0 |
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