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Overview
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Calculated MW: 46 kDa
Observed MW: Refer to figures
Gene Accession: NP001107607Please contact us at for specific academic pricing.
Background
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. DMTN (Dematin Actin Binding Protein) is a Protein Coding gene. Diseases associated with DMTN include Hypotrichosis and Hereditary Spherocytosis. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Miscellaneous transport and binding events. GO annotations related to this gene include receptor binding and protein self-association. An important paralog of this gene is ABLIM1.
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