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Open Access Articles- Top Results for PCDH15

PCDH15

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Identifiers
SymbolsPCDH15 ; CDHR15; DFNB23; USH1F
External IDsOMIM605514 MGI1891428 HomoloGene23401 ChEMBL: 6112 GeneCards: PCDH15 Gene
Orthologs
SpeciesHumanMouse
Entrez6521711994
EnsemblENSG00000150275ENSMUSG00000052613
UniProtQ96QU1Q99PJ1
RefSeq (mRNA)NM_001142763NM_001142735
RefSeq (protein)NP_001136235NP_001136207
Location (UCSC)Chr 10:
55.56 – 57.39 Mb
Chr 10:
73.1 – 74.65 Mb
PubMed search[1][2]

Protocadherin-15 is a protein that in humans is encoded by the PCDH15 gene.[1][2][3]

Function

This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. The protein product of this gene consists of a signal peptide, 11 extracellular calcium-binding domains, a transmembrane domain and a unique cytoplasmic domain. It plays an essential role in maintenance of normal retinal and cochlear function.[3] It is thought to interact with CDH23 to form tip-link filaments.[4]

Clinical significance

Mutations in this gene have been associated with hearing loss, which is consistent with its location at the Usher syndrome type 1F (USH1F) critical region on chromosome 10.[3]

References

  1. ^ Ahmed ZM, Riazuddin S, Bernstein SL, Ahmed Z, Khan S, Griffith AJ, Morell RJ, Friedman TB, Riazuddin S, Wilcox ER (Jun 2001). "Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F". Am J Hum Genet 69 (1): 25–34. PMC 1226045. PMID 11398101. doi:10.1086/321277. 
  2. ^ Ahmed ZM, Riazuddin S, Ahmad J, Bernstein SL, Guo Y, Sabar MF, Sieving P, Riazuddin S, Griffith AJ, Friedman TB, Belyantseva IA, Wilcox ER (Dec 2003). "PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23". Hum Mol Genet 12 (24): 3215–23. PMID 14570705. doi:10.1093/hmg/ddg358. 
  3. ^ a b c "Entrez Gene: PCDH15 protocadherin 15". 
  4. ^ Kazmierczak, Piotr; Sakaguchi, Hirofumi; Tokita, Joshua; Wilson-Kubalek, Elizabeth M.; Milligan, Ronald A.; Müller, Ulrich; Kachar, Bechara (2007). "Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells". Nature 449 (7158): 87–91. PMID 17805295. doi:10.1038/nature06091. 

Further reading

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External links

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