ATL3 gene

atlastin GTPase 3

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

GTPase tethering membranes through formation of trans-homooligomers and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis.

From NCBI Gene:

  • Hereditary sensory neuropathy type IF

From UniProt:

Neuropathy, hereditary sensory, 1F (HSN1F): An autosomal dominant sensory neuropathy affecting the lower limbs. Distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation. There is no autonomic involvement, spasticity, or cognitive impairment. [MIM:615632]

Cytogenetic Location: 11q13.1, which is the long (q) arm of chromosome 11 at position 13.1

Molecular Location: base pairs 63,624,082 to 63,671,974 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11q13.1, which is the long (q) arm of chromosome 11 at position 13.1