MYBPC1 Antibody – Rabbit Polyclonal

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]

MYBPC1: Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role. Defects in MYBPC1 are the cause of arthrogryposis, distal, type 1B (DA1B). A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 1 is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected. Defects in MYBPC1 may be a cause of autosomal recessive lethal congenital contractural syndrome (LCCS), a severe, neonatally lethal form of arthrogryposis. Belongs to the immunoglobulin superfamily. MyBP family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Actin-binding; Myosin-binding

Chromosomal Location of Human Ortholog: 12q23.2

Cellular Component: myofibril; cytosol

Molecular Function: protein binding; structural constituent of muscle; titin binding; actin binding

Biological Process: cell adhesion; muscle filament sliding

Disease: Lethal Congenital Contracture Syndrome 4; Arthrogryposis, Distal, Type 1b