STRC
| STRC | ||||||
|---|---|---|---|---|---|---|
| Identifiers | ||||||
Ensembl | ||||||
| UniProt | ||||||
| RefSeq (mRNA) | ||||||
| RefSeq (protein) | ||||||
| Location (UCSC) | Chr 15: 43.6 – 43.62 Mb | Chr 2: 121.19 – 121.22 Mb | ||||
| PubMed search | [3] | [4] | ||||
| View/Edit Human | View/Edit Mouse |
Stereocilin is a protein that in humans is encoded by the STRC gene.[5][6][7]
The STRC gene provides instructions for creating a protein called stereocilin, named for its location outside the stereocilia cells in the inner ear. This protein is associated with the hair bundle of the sensory hair cells in the inner ear. The hair bundle is composed of stiff
This gene is part of a tandem duplication on chromosome 15; the second copy is a
Mutations in STRC is the most common cause of moderate
99% of the genetic alterations in the STRC gene associated with non-syndromic hearing loss involve large copy number variations. Often, the alteration is a large deletion on chromosome 15, including several genes, among them STRC. In some cases, this deletion includes the CATSPER2 gene, which can lead to fertility issues in males.
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000242866 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000033498 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- S2CID 23062750.
- PMID 9429146.
- ^ a b "Entrez Gene: STRC stereocilin".
- PMID 21165971.
- PMID 26969326.
- S2CID 13630829.
Further reading
- Bitner-Glindzicz M (2002). "Hereditary deafness and phenotyping in humans". British Medical Bulletin. 63: 73–94. PMID 12324385.
- Zody MC, Garber M, Sharpe T, Young SK, Rowen L, O'Neill K, et al. (March 2006). "Analysis of the DNA sequence and duplication history of human chromosome 15". Nature. 440 (7084): 671–675. PMID 16572171.
- Jovine L, Park J, Wassarman PM (November 2002). "Sequence similarity between stereocilin and otoancorin points to a unified mechanism for mechanotransduction in the mammalian inner ear". BMC Cell Biology. 3: 28. PMID 12445334.
- Villamar M, del Castillo I, Valle N, Romero L, Moreno F (April 1999). "Deafness locus DFNB16 is located on chromosome 15q13-q21 within a 5-cM interval flanked by markers D15S994 and D15S132". American Journal of Human Genetics. 64 (4): 1238–1241. PMID 10090914.