DMTN

Also known as DMT, EPB49, dematin actin binding protein

Dematin is a protein that in humans is encoded by the EPB49 gene.

Gene data

DMTN

Name: dematin actin binding protein
Type: protein-coding
Position: 22,048,995–22,082,527 (+)
Aliases: DMT, EPB49
Ensembl: ENSG00000158856
RefSeq RNA: NM_001114135.5, NM_001114136.3, NM_001114137.4, NM_001114138.3, NM_001114139.4
RefSeq protein: NP_001107607.1, NP_001107608.1, NP_001107609.1, NP_001107610.1, NP_001107611.1

The protein encoded by this gene is an actin binding and bundling protein that plays a structural role in erythrocytes, by stabilizing and attaching the spectrin/actin cytoskeleton to the erythrocyte membrane in a phosphorylation-dependent manner. This protein contains a core domain in the N-terminus, and a headpiece domain in the C-terminus that binds F-actin. When purified from erythrocytes, this protein exists as a trimer composed of two 48 kDa polypeptides and a 52 kDa polypeptide. The different subunits arise from alternative splicing in the 3' coding region, where the headpiece domain is located. Disruption of this gene has been correlated with the autosomal dominant Marie Unna hereditary hypotrichosis disease, while loss of heterozygosity of this gene is thought to play a role in prostate cancer progression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2014].