ESPN wt Allele

Preferred Label : ESPN wt Allele;

NCIt synonyms : Deafness, Autosomal Recessive 36 Gene; DFNB36; Espin, Mouse, Homolog of Gene; USH1M; Espin wt Allele; LP2654;

NCIt definition : Human ESPN wild-type allele is located in the vicinity of 1p36.31 and is approximately 37 kb in length. This allele, which encodes espin protein, plays a role in microvillus formation, function and maintenance in mechanosensory and chemosensory cells. Mutation of the gene is associated with type 1M Usher syndrome, autosomal recessive neurosensory deafness type 36 and autosomal dominant sensorineural deafness without vestibular involvement.;

NCI Metathesaurus CUI : CL1915473;

GenBank Accession Number : AF134401;

Details

Origin ID

C201103;

UMLS CUI

C5849070;

OMIM relation
- Espin [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Cell Movement Process [NCIt concept]
- Cytoskeletal Modeling [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Hearing [NCIt concept]
- Regulation of Cell Shape [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients