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Sequence of this protein is as follows: EEGLNFPTYD GKDRVVSLSE KNFKQVLKKY DLLCLYYHEP VSSDKVTQKQ FQLKEIVLEL VAQVLEHKAI GFVMVDAKKE AKLAKKLGFD EEGSLYILKG DRTIEFDGEF AADVLVEFLL DLIEDPVEII SSKLEVQAFE RIEDYIKLIG FFKSEDSEYY KAFEEAAEHF QPYIKFFATF DKGVAKKLSL KMNEVDFYEP FMDEPIAIPN KPYTEEELVE FVKEHQRPTL RRLRPEEMFE TWEDDLNGIH IVAFAEKSDP DGYEFLEILK QVARDNTDNP DLSILWIDPD DFPLLVAYWE KTFKIDLFRP QIGVVNVTDA DSVWMEIPDD DDLPTAEELE DWIEDVLSGK INTEDDDEDD DDDDNSDEED NDDSDDDDDE
Calsequestrin (CASQ) is a Ca2+-binding protein present primarily in junctional sarcoplasmic reticulum of skeletal and cardiac muscle; the cardiac form (CASQ2) is encoded by a separate gene. The primary role of CASQ2 is buffering of the sarcoplasmic reticulum Ca2+ ions, but another role for CASQ2 has emerged recently: CASQ2 regulates the open probability of ryanodine receptor 2 (RyR2). Mutations in CASQ2 cause stress-induced polymorphic ventricular tachycardia, also referred to as catecholaminergic polymorphic ventricular tachycardia 2 (CPVT2), a disease characterized by bidirectional ventricular tachycardia that may lead to cardiac arrest.
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: calsequestrin 2 (cardiac muscle); calsequestrin 2, fast-twitch, cardiac muscle; Calsequestrin, cardiac muscle isoform; Calsequestrin-2
基因别名: CASQ2; PDIB2
UniProt ID: (Human) O14958
Entrez Gene ID: (Human) 845