STRC stereocilin

Gene ID: 161497, updated on 28-Oct-2024
Gene type: protein coding
Also known as: DFNB16

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Autosomal recessive nonsyndromic hearing loss 16 MedGen: C1863561OMIM: 603720GeneReviews: Genetic Hearing Loss Overview, STRC-Related Autosomal Recessive Hearing Loss	See labs
Deafness-infertility syndrome MedGen: C1970187OMIM: 611102GeneReviews: STRC-Related Autosomal Recessive Hearing Loss	See labs
Spermatogenic failure 7 MedGen: C2751811OMIM: 612997GeneReviews: Not available	See labs

Genomic context

Location:: 15q15.3

Sequence:: Chromosome: 15; NC_000015.10 (43599563..43618800, complement)

Total number of exons:: 29

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for STRC variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
STRC database
Variation Viewer
Related Variants

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