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DYSF O75923

dysferlin (肌营养不良相关fer-1样蛋白) (Fer-1样蛋白1)

蛋白质信息 (UniProt)

dysferlin (肌营养不良相关fer-1样蛋白) (Fer-1样蛋白1)

O75923

功能描述

关键的钙离子传感器,参与Ca(2+)触发的突触囊泡-质膜融合。在骨骼肌和心肌细胞的肌膜修复机制中发挥作用,该机制允许快速重封闭因机械应力而破裂的膜 (By similarity)。 {ECO:0000250}。

组织特异性

Expressed in skeletal muscle, myoblast, myotube and in the syncytiotrophoblast (STB) of the placenta (at protein level). Ubiquitous. Highly expressed in skeletal muscle. Also found in heart, brain, spleen, intestine, placenta and at lower levels in liver, lung, kidney and pancreas.

亚细胞定位

Cell membrane, sarcolemma

关键词

3D-structure Alternative promoter usage Alternative splicing Calcium Cell membrane Cytoplasmic vesicle Disease variant Endosome Limb-girdle muscular dystrophy Lipid-binding