ATP2A2

This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of the skeletal muscle. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol into the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis follicularis, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Other types of mutations in this gene have been associated with various forms of muscular dystrophies. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2019]

本基因编码SERCA Ca(2+)-ATPase家族成员之一，该家族成员为细胞内泵，位于骨骼肌的肌浆网或内质网中。该酶催化ATP的水解与钙离子从细胞质向肌浆网腔的转移相偶联，并参与调节收缩/舒张周期。该基因的突变可导致Darier-White病，亦称为毛囊角化病，是一种常染色体显性皮肤疾病，其特征为表皮细胞间粘附性丧失及角化异常。该基因的其他类型突变与多种形式的肌营养不良症相关。可变剪接导致多种转录本变异，这些变异编码不同的同源异构体。[由RefSeq提供，2019年12月]