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- Table of Contents
Facts about Transmembrane protein 231.
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Human | |
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Gene Name: | TMEM231 |
Uniprot: | Q9H6L2 |
Entrez: | 79583 |
Belongs to: |
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TMEM231 family |
ALYE870; FLJ22167; PRO1886; transmembrane protein 231
Mass (kDA):
36.059 kDA
Human | |
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Location: | 16q23.1 |
Sequence: | 16; NC_000016.10 (75536741..75556286, complement) |
Cell projection, cilium membrane; Multi-pass membrane protein. Localizes to the transition zone of primary cilia; SEPT2 is required for localization to the transition zone.
PMID: 26595381 by Lambacher N.J., et al. TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.
PMID: 23012439 by Srour M., et al. Mutations in TMEM231 cause Joubert syndrome in French Canadians.