ALMS1 wt Allele

Preferred Label : ALMS1 wt Allele;

NCIt synonyms : ALMS1 Centrosome and Basal Body Associated Protein wt Allele; Alstrom Syndrome 1 Gene; KIAA0328; ALSS;

NCIt definition : Human ALMS1 wild-type allele is located in the vicinity of 2p13.1 and is approximately 239 kb in length. This allele, which encodes centrosome-associated protein ALMS1, plays a role in endosomal transport and in centriole formation and function. Mutation of the gene is associated with Alstrom syndrome.;

NCI Metathesaurus CUI : CL1905441;

GenBank Accession Number : AB002326;

Details

Origin ID

C191922;

UMLS CUI

C5780738;

OMIM relation
- Alms1 centrosome and basal body associated protein [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 2p13.1 [NCIt concept]
gene_plays_role_in_process
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Microtubule Process [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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