External Ids for ATL3 Gene
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]
GeneCards Summary for ATL3 Gene
ATL3 (Atlastin GTPase 3) is a Protein Coding gene. Diseases associated with ATL3 include neuropathy, hereditary sensory, type if and dnmt1-related dementia, deafness, and sensory neuropathy. GO annotations related to this gene include identical protein binding and GTPase activity. An important paralog of this gene is ATL2.
UniProtKB/Swiss-Prot for ATL3 Gene
GTPase tethering membranes through formation of trans-homooligomers and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis.