Gene Symbol | ATL3 |
Entrez Gene ID | 25923 |
Full Name | atlastin GTPase 3 |
Synonyms | HSN1F |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of a family of dynamin-like, integral membrane GTPases. The encoded protein is required for the proper formation of the network of interconnected tubules of the endoplasmic reticulum. Mutations in this gene may be associated with hereditary sensory neuropathy type IF. Alternatively spliced transcript variants that encode distinct isoforms have been described. [provided by RefSeq, Feb 2014]. |
Disorder MIM: | |
Disorder Html: | Neuropathy, hereditary sensory, type IF, 615632 (3) |