Stereocilin

Alternative Names

  • STRC
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OMIM Number

606440

NCBI Gene ID

161497

Uniprot ID

Q7RTU9

Length

19,238 bases

No. of Exons

29

No. of isoforms

1

Protein Name

Stereocilin

Molecular Mass

192967 Da

Amino Acid Count

1775

Genomic Location

chr15:43,599,562-43,618,799

Gene Map Locus
15q15.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_153700.2:c.4510delUnited Arab EmiratesNC_000015.10:g.43603277delLikely PathogenicLikely PathogenicDeafness, Autosomal Recessive 16NG_011636.1:g.20524del; NM_153700.2:c.4510del; NP_714544.1:p.Glu1504ArgfsTer327598160641325151
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