MYBPC1

Highest pathogenic variant AF is 0.0000065690074

Gene type

protein_coding

Transcript type

protein_coding

Transcript

ENST00000452455

Coding exons

30

Length

117666

Individuals with no LoFs

125717

Homozygous LoFs

0

Heterozygous LoFs

31

Defined

125748

p

0.000123

Function

FUNCTION: 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.;

Disease

DISEASE: Arthrogryposis, distal, 1B (DA1B) [MIM:614335]: 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. {ECO:0000269|PubMed:20045868, ECO:0000269|PubMed:26661508}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Lethal congenital contracture syndrome 4 (LCCS4) [MIM:614915]: A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. {ECO:0000269|PubMed:22610851}. Note=The disease is caused by mutations affecting the gene represented in this entry.;