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Immunogen sequence: DDDSGEEMKA LRERQREELS KVTSNLGKMI LKEEMEKSLP IRRKTRSLPD RTPFHTSLHQ GT
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Dematin; Dematin actin-binding protein; Erythrocyte membrane protein band 4.9; erythrocyte membrane protein band 4.9 (dematin)
基因别名: DMT; DMTN; EPB49
UniProt ID: (Human) Q08495
Entrez Gene ID: (Human) 2039