DFNA5 (deafness, autosomal dominant 5) is a putative tumor suppressor gene, first identified in a Dutch family with autosomal dominant hearing loss. This gene is located on human chromosome 7p15, and is expressed in brain, cochlea, kidney and placenta. The encoded protein is composed of 496 amino acids. It is also called ICERE-1 (inversely correlated with estrogen receptor expression) as it has a suppressed expression in estrogen receptor (ER)-positive breast cancer as opposed to ER-negative tumors.
Synonyms: Anti-ICERE-1; Anti-Inversely correlated with estrogen receptor expression 1; Anti-Non-syndromic hearing impairment protein 5
Storage: -20C
Application: Anti-DFNA5 antibody produced in rabbit, a Prestige Antibody, is developed and validated by the Human Protein Atlas (HPA) project (www.proteinatlas.org). Each antibody is tested by immunohistochemistry against hundreds of normal and disease tissues. These images can be viewed on the Human Protein Atlas (HPA) site by clicking on the Image Gallery link. The antibodies are also tested using immunofluorescence and western blotting. To view these protocols and other useful information about Prestige Antibodies and the HPA, visit sigma.com/prestige.
Biochem Physiol Actions: DFNA5 (deafness, autosomal dominant 5) is associated with autosomal dominant nonsyndromic hereditary hearing loss (NSHHL), and four mutations in this gene have been identified which lead to hearing loss. These mutations occur in introns 7 and 8 and usually cause the skipping of exon 8, leading to a truncated DFNA5 protein. This gene is epigenetically suppressed in various tumors such as, breast, gastric and colorectal cancers. The degree of DFNA5 methylation in breast cancer is associated with lymph node metastasis. This gene is also down-regulated in hepatocellular carcinoma (HCC).
Legal Information: Prestige Antibodies is a registered trademark of Sigma-Aldrich Co. LLC