Gene: MYBPC1

Alternate names for this Gene: LCCS4|MYBPCC|MYBPCS|MYOTREM|ssMyBP-C

Gene Summary: 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.

Gene is located in Chromosome: 12

Location in Chromosome : 12q23.2

Description of this Gene: myosin binding protein C1

Type of Gene: protein-coding

rs387906657 in MYBPC1 gene and ARTHROGRYPOSIS, DISTAL, TYPE 1B PMID 26661508 2016 Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita.

PMID 20045868 2010 Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.

rs2695294 in MYBPC1 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs10860757 in MYBPC1 gene and Forced expiratory volume function PMID 24023788 2013 Gene network analysis in a pediatric cohort identifies novel lung function genes.

rs1076534 in MYBPC1 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.