DFNA5 / GSDME Mouse Monoclonal Antibody [A1H3] (EM1901-48)

UNIPROT #

O60443

PROTEIN NAME

DFNA5/GSDME

SYNONYMS

2310037D07Rik antibody;4932441K13Rik antibody;Deafness, autosomal dominant 5 antibody;Deafness, autosomal dominant 5 protein antibody;DFNA5 antibody;DFNA5 gene antibody;DFNA5_HUMAN antibody;Dfna5h antibody;EG14210 antibody;Fin15 antibody;ICERE 1 antibody;ICERE-1 antibody;Inversely correlated with estrogen receptor expression 1 antibody;Non-syndromic hearing impairment protein 5 antibody;Nonsyndromic hearing impairment protein antibody

SEQUENCE SIMILARITIES

Belongs to the gasdermin family.

TISSUE SPECIFICITY

Expressed in cochlea. Low level of expression in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas, with highest expression in placenta.

POST-TRANSLATIONAL MODIFICATION

Cleavage at Asp-270 by CASP3 (mature and uncleaved precursor forms) relieves autoinhibition and is sufficient to initiate pyroptosis.

SUBCELLULAR LOCATION

Cell membrane, cytosol.

FUNCTION

Non-syndromic hearing impairment protein 5 is a protein that in humans is encoded by the DFNA5 gene. Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. The observation that DFNA5 is epigenetically inactivated in a large number of cancers of frequent types (gastric, colorectal, and breast) is another important finding and is in line with its apoptosis-inducing properties. Indeed, if apoptosis is an intrinsic feature of DFNA5, shutting the gene down in tumor cells makes them more susceptible to uncontrolled cellular growth. Moreover, the fact that DFNA5 is regulated by P53 strongly suggests that DFNA5 is a tumor suppressor gene.