full name
myosin binding protein C, slow type

synonyms
LCCS4, MYBPCC, MYBPCS, MYBPC1, ENSG00000196091

HGNC
HGNC:7549

Entrez Gene
Gene:4604

ENSEMBL
ENSG00000196091

location
chr: 12
start: 101988709
stop: 102079658
strand: +

OMIM
OMIM:160794: MYBPC1
OMIM:614335: Arthrogryposis, distal, type 1B
OMIM:614915: Lethal congenital contracture syndrome 4
OMIM:618524: Myopathy, congenital, with tremor

transcripts
NM_002465.3
NM_206819.2
NM_001254718.1
NM_206820.2
NM_001254719.1
NM_206821.2
NM_001254721.1
NM_001254720.1
NM_001254723.1
NM_001254722.1

pathways
Muscle contraction [NCBI:1269868] [REACTOME:R-HSA-397014]
Striated Muscle Contraction [NCBI:1269869] [REACTOME:R-HSA-390522] [PUBMED:15173217] [PUBMED:13165697] [PUBMED:15173218] [PUBMED:13175187]