Entity Details

Primary name MYBPC1
Entity type gene
Source Source Link

Details

PrimaryID4604
RefseqGeneNG_031912
SymbolMYBPC1
Namemyosin binding protein C1
Chromosome12
Location12q23.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsMYPC1_HUMAN

GO terms

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GOName
GO:0003779 actin binding
GO:0005829 cytosol
GO:0007155 cell adhesion
GO:0008307 structural constituent of muscle
GO:0017022 myosin binding
GO:0030016 myofibril
GO:0030049 muscle filament sliding
GO:0031432 titin binding
GO:0032982 myosin filament

Diseases

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Disease IDSourceNameDescription
614915 OMIMLethal congenital contracture syndrome 4 (LCCS4)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. The disease is caused by variants affecting the gene represented in this entry.
614335 OMIMArthrogryposis, distal, 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. The disease is caused by variants affecting the gene represented in this entry.
618524 OMIMMyopathy, congenital, with tremor (MYOTREM)An autosomal dominant muscular disorder characterized by muscle weakness, hypotonia associated with high-frequency postural tremor of the limbs, mildly delayed walking, and steppage gait. Additional features include skeletal deformities such as scoliosis, thoracic asymmetry and spinal rigidity. Some patients show mild facial dysmorphic features. Cognitive functions are normal. The disease is caused by variants affecting the gene represented in this entry.