更多...
收起
This gene encodes a member of the myosin-binding protein C family. This family includes the fast-, slow- and cardiac-type isoforms, each of which is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The protein encoded by this locus is referred to as the fast-type isoform. Mutations in the related but distinct genes encoding the slow-type and cardiac-type isoforms have been associated with distal arthrogryposis, type 1 and hypertrophic cardiomyopathy, respectively. [provided by RefSeq, Jul 2012]
[中文简述(自动翻译):]  该基因编码的肌球蛋白结合蛋白C家族中的一员。该家族包括纳入上述注重,缓慢和心脏型同种型,其中每一个是在横纹肌A频带的在横向桥承载区(C区)发现了肌球蛋白相关蛋白。通过该位点编码的蛋白质被称为快速型同种型。在编码慢型和心脏型同工型相关的但不同的基因突变与远侧关节弯曲,1型和肥厚性心肌病,分别相关联。 [由RefSeq的,2012年7月提供]
MYBPC2基因(以及对应的蛋白质)的细胞分布位置:
MYBPC2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Hypertrophic Cardiomyopathy | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Cardiomyopathies | 0.000542884 | 2 | 0 | BeFree |
Cardiomyopathy, Dilated | 0.000271442 | 1 | 0 | BeFree |
Cardiomyopathy, Hypertrophic, Familial | 0.000271442 | 1 | 0 | BeFree |
忘记密码? 点击找回密码.
扫一扫右方二维码,关注微信订阅号,实时查看信息,关注医学生物学动态。