STRC

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STRC
Identifiers
AliasesSTRC, DFNB16, stereocilin
External IDsMGI: 2153816 HomoloGene: 15401 GeneCards: STRC
Gene location (Human)
Chromosome 15 (human)
Chr.Chromosome 15 (human)[1]
Chromosome 15 (human)
Genomic location for STRC
Genomic location for STRC
Band15q15.3Start43,599,563 bp[1]
End43,618,800 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_153700

NM_080459

RefSeq (protein)

NP_714544

NP_536707

Location (UCSC)Chr 15: 43.6 – 43.62 MbChr 2: 121.36 – 121.39 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Stereocilin is a protein that in humans is encoded by the STRC gene.[5][6][7]

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.[7]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000242866 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000033498 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ Verpy E, Masmoudi S, Zwaenepoel I, Leibovici M, Hutchin TP, Del Castillo I, Nouaille S, Blanchard S, Laine S, Popot JL, Moreno F, Mueller RF, Petit C (Nov 2001). "Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus". Nat Genet. 29 (3): 345–9. doi:10.1038/ng726. PMID 11687802. 
  6. ^ Campbell DA, McHale DP, Brown KA, Moynihan LM, Houseman M, Karbani G, Parry G, Janjua AH, Newton V, al-Gazali L, Markham AF, Lench NJ, Mueller RF (Feb 1998). "A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22". J Med Genet. 34 (12): 1015–7. doi:10.1136/jmg.34.12.1015. PMC 1051155Freely accessible. PMID 9429146. 
  7. ^ a b "Entrez Gene: STRC stereocilin". 

Further reading[edit]