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- Table of Contents
Facts about Transmembrane protein 237.
.
Human | |
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Gene Name: | TMEM237 |
Uniprot: | Q96Q45 |
Entrez: | 65062 |
Belongs to: |
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TMEM237 family |
amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4; amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein; N-terminus truncated
Mass (kDA):
45.526 kDA
Human | |
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Location: | 2q33.1 |
Sequence: | 2; NC_000002.12 (201620186..201643503, complement) |
Membrane; Multi-pass membrane protein. Cell projection, cilium. Localizes at the proximal region of primary cilia were observed, consistent with localization to the transition zone. Anchored to the transition zone by RPGRIP1L.
PMID: 11586298 by Hadano S., et al. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2.
PMID: 26595381 by Lambacher N.J., et al. TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.