ATL1 wt Allele

Preferred Label : ATL1 wt Allele;

NCIt synonyms : FSP1; Atlastin GTPase 1 wt Allele; Atlastin 1 Gene; HSN1D; SPG3A; AD-FSP; Spastic Paraplegia 3A (Autosomal Dominant) Gene; GBP3; atlastin1; Atlastin Gene; SPG3;

NCIt definition : Human ATL1 wild-type allele is located in the vicinity of 14q22.1 and is approximately 102 kb in length. This allele, which encodes atlastin-1 protein, plays a role in organization of the endoplasmic reticulum and axonal maintenance. Mutation of the gene is associated with hereditary sensory neuropathy 1D and autosomal dominant spastic paraplegia 3A.;

NCI Metathesaurus CUI : CL1912924;

GenBank Accession Number : AF131801;

Details

Origin ID

C192697;

UMLS CUI

C5780973;

OMIM relation
- Atlastin gtpase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- GTP Binding [NCIt concept]
- Hydrolysis [NCIt concept]
- Protein-Protein Interaction [NCIt concept]

Keyword's position in hierarchy(ies) :

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