STRC

This gene encodes a protein that is associated with the hair bundle of the sensory hair cells in the inner ear. The hair bundle is composed of stiff microvilli called stereocilia and is involved with mechanoreception of sound waves. This gene is part of a tandem duplication on chromosome 15; the second copy is a pseudogene. Mutations in this gene cause autosomal recessive non-syndromic deafness. [provided by RefSeq, Jul 2008]

Description

Stereocilin

Tissue specificity

Group enriched (brain, pituitary gland, retina, testis)

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Kim et al 2014)

Chromosome

15 (43599563 - 43618800)

Ensembl ID

ENSG00000242866  (ver. 103.38)

Orthologs

Mouse Strc: ENSMUSG00000033498

UniProt

Q7RTU9

neXtProt

NX_Q7RTU9

Human splice variants
Mouse splice variants

Protein structure