STRC

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Stereocilin
Identifiers
Symbols STRC ; DFNB16
External IDs OMIM606440 MGI2153816 HomoloGene15401 GeneCards: STRC Gene
Orthologs
Species Human Mouse
Entrez 161497 140476
Ensembl ENSG00000242866 ENSMUSG00000033498
UniProt Q7RTU9 Q8VIM6
RefSeq (mRNA) NM_153700 NM_080459
RefSeq (protein) NP_714544 NP_536707
Location (UCSC) Chr 15:
43.89 – 44.01 Mb
Chr 2:
121.36 – 121.39 Mb
PubMed search [1] [2]

Stereocilin is a protein that in humans is encoded by the STRC gene.[1][2][3]

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.[3]

References[edit]

  1. ^ 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. 
  2. ^ 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 1051155. PMID 9429146. 
  3. ^ a b "Entrez Gene: STRC stereocilin". 

Further reading[edit]