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TMEM138 / HSPC196

transmembrane protein 138

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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PLEASE NOTE

For RESEARCH USE ONLY. Intended for use by laboratory professionals. Not intended for human diagnostic or therapeutic purposes.

The data on this page has been compiled from LifeSpan internal sources, the National Center for Biotechnology Information (NCBI), and The Universal Protein Resource (UniProt).