Gene Symbol | TRIM2 |
Entrez Gene ID | 23321 |
Full Name | tripartite motif containing 2 |
Synonyms | CMT2R,RNF86 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic filaments. It plays a neuroprotective role and functions as an E3-ubiquitin ligase in proteasome-mediated degradation of target proteins. Mutations in this gene can cause early-onset axonal neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]. |
Disorder MIM: | |
Disorder Html: | Charcot-Marie-Tooth disease, type 2R, 615490 (3) |