Myosin Light Chain 3, Alkali, Ventricular, Slow Skeletal (MYL3)

CMH8; MLC1V; VLC1; MLC1SB; Cardiac myosin light chain 1; Ventricular/slow twitch myosin alkali light chain

SPN	T357
HGNC	7584
MGI	97268
PubMed	23594557
RGD	3142
UniProt	P08590
Wiki	MYL3

MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy.

Adenoviral gene transfer of p35 in vivo prevented caspase-3 activation and MYL3 cleavage, with positive impact on contractility. These data suggested that direct cleavage of the myosin light chain by activated caspase-3 may contribute to depression of myocyte function by altering crossbridge interaction between myosin and actin molecules. Therefore, activation of apoptotic pathways in the heart may lead to contractile dysfunction before cell death.

Reference

"Molecular cloning and characterization of human atrial and ventricular myosin alkali light chain cDNA clones."
J. Biol. Chem. 263:13930-13936(1988) [PubMed] [Europe PMC] [Abstract]

"Molecular cloning and complete nucleotide sequence of a human ventricular myosin light chain 1."
Nucleic Acids Res. 16:2353-2353(1988) [PubMed] [Europe PMC] [Abstract]

"Human ventricular/slow twitch myosin alkali light chain gene characterization, sequence, and chromosomal location."
J. Biol. Chem. 264:2143-2149(1989) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"The major protein expression profile and two-dimensional protein database of human heart."
Electrophoresis 16:1160-1169(1995) [PubMed] [Europe PMC] [Abstract]

"The widespread distribution of alpha-N-trimethylalanine as the N-terminal amino acid of light chains from vertebrate striated muscle myosins."
Eur. J. Biochem. 148:75-82(1985) [PubMed] [Europe PMC] [Abstract]

"Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle."
Nat. Genet. 13:63-69(1996) [PubMed] [Europe PMC] [Abstract]

"Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology."
Circulation 105:2337-2340(2002) [PubMed] [Europe PMC] [Abstract]

"Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy."
Circulation 107:2227-2232(2003) [PubMed] [Europe PMC] [Abstract]

Erratum
Circulation 109:3258-3258(2004)