人 MYBPC1 (NM_001254719) cDNA克隆

Accession: NM_001254719
基因名称: MYBPC1
基因别名: LCCS4; MYBPCC; MYBPCS
基因描述: Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 6, mRNA.
种属: Human
CDS区长度: 3441 (查看编码区序列)
翻译后氨基酸长度: 1146 (查看氨基酸序列)
Transcript Variant: This variant (6) lacks two consecutive exons in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (6) is shorter than isoform 1.
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G124708 人 MYBPC1 (NM_001254719) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]