BEAN1 wt Allele

Preferred Label : BEAN1 wt Allele;

NCIt synonyms : SCA31; BEAN; Brain Expressed Associated with NEDD4 1 wt Allele; Spinocerebellar Ataxia 31 Gene; Brain-Expressed, Associated with NEDD4 Gene; Brain-Expressed, Associated with NEDD4, 1 Gene;

NCIt definition : Human BEAN1 wild-type allele is located in the vicinity of 16q21 and is approximately 68 kb in length. This allele, which encodes protein BEAN1, may play a role in the regulation of protein ubiquitination. Insertions of over 110 copies of pentanucleotide repeats, including a (TGGAA)n sequence, in intronic regions of this gene (and/or the TK2 gene, which shares an overlapping sequence and is transcribed in the opposite orientation) is associated with spinocerebellar ataxia 31.;

NCI Metathesaurus CUI : CL1912919;

GenBank Accession Number : BC000818;

Details

Origin ID

C192719;

UMLS CUI

C5781208;

Automatic exact mappings (from CISMeF team)
- Spinocerebellar ataxia type 31 [ORDO Disease]
OMIM relation
- Brain-expressed, associated with nedd4, 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 16q21 [NCIt concept]
gene_plays_role_in_process
- Ubiquitination [NCIt concept]

Keyword's position in hierarchy(ies) :

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