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- Table of Contents
Facts about Transmembrane protein 216.
Human | |
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Gene Name: | TMEM216 |
Uniprot: | Q9P0N5 |
Entrez: | 51259 |
Belongs to: |
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No superfamily |
Transmembrane protein 216
Mass (kDA):
16.487 kDA
Human | |
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Location: | 11q12.2 |
Sequence: | 11; NC_000011.10 (61391982..61398863) |
Membrane; Multi-pass membrane protein. Cytoplasm, cytoskeleton, cilium basal body. Localizes at the transition zone, a region between the basal body and the ciliary axoneme.
PMID: 26595381 by Lambacher N.J., et al. TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.
PMID: 20036350 by Edvardson S., et al. Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.