ANXA11 wt Allele

Preferred Label : ANXA11 wt Allele;

NCIt synonyms : CAP50; CAP-50; IBMWMA; Annexin A11 wt Allele; Autoantigen, 56-kD Gene; ALS23; ANX11;

NCIt definition : Human ANXA11 wild-type allele is located in the vicinity of 10q22.3 and is approximately 55 kb in length. This allele, which encodes annexin A11 protein, is involved in the terminal phase of cytokinesis and phospholipid binding. Mutation of the gene is associated with amyotrophic lateral sclerosis 23 and inclusion body myopathy and brain white matter abnormalities.;

NCI Metathesaurus CUI : CL1905414;

GenBank Accession Number : L19605;

Details

Origin ID

C191965;

UMLS CUI

C5781201;

OMIM relation
- Annexin a11 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 10q22.3 [NCIt concept]
gene_is_element_in_pathway
- Amyotrophic Lateral Sclerosis Pathway [NCIt concept]
gene_plays_role_in_process
- Calcium Binding [NCIt concept]
- Cytokinesis [NCIt concept]
- Ligand Binding [NCIt concept]
- Phospholipid Binding [NCIt concept]

Keyword's position in hierarchy(ies) :

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