Usherin - CISMeF

Preferred Label : Usherin;

NCIt synonyms : Usher Syndrome Type-2A Protein; Usher Syndrome Type IIa Protein; USH2A;

NCIt definition : Usherin (5202 aa, 576 kDa) is encoded by the human USH2A gene. This protein is involved in the functionality of cochlear hair cells and retinal photoreceptor cells.;

Détails

Origin ID

C213534;

OMIM relation
- Usherin [OMIM gene]
gene_encodes_gene_product
- Structural Protein Gene [NCIt concept]
- USH2A Gene [NCIt concept]
gene_product_expressed_in_tissue
- Cochlea [NCIt concept]
- Retina [NCIt concept]
gene_product_has_associated_anatomy
- Basement Membrane [NCIt concept]
- Ciliary Process [NCIt concept]
- Connecting Segment of the Photoreceptor Cell [NCIt concept]
- Inner Segment of the Photoreceptor Cell [NCIt concept]
- Stereocilium [NCIt concept]
gene_product_plays_role_in_biological_process
- Hearing [NCIt concept]
- Sight [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients