Myosin Heavy Chain 6, Cardiac Muscle, Alpha (MYH6)

ASD3; MYHC; MYHCA; MyHC-alpha; Cardiomyopathy,Hypertrophic 1; Myosin heavy chain, cardiac muscle alpha isoform

SPN	T363
HGNC	7576
MGI	97255
PubMed	24092743
RGD	62029
UniProt	P13533
Wiki	MYH6

MYH6encodes the alpha heavy chain subunit of cardiac myosin. The gene is located 4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. Unlike the hemoglobin and immunoglobulin examples in which switches are unidirectional--a gene switched off in a terminally differentiated cell cannot be switched on again--the beta-MYHC gene can be switched on again either spontaneously in older animals or experimentally in response to thyroid hormone depletion/replacement or different mechanical stimuli. The alpha-MYHC gene is expressed also in atrial muscle and the beta-MYHC gene in skeletal slow-twitch muscle.

Reference

"Complete sequence of human cardiac alpha-myosin heavy chain gene and amino acid comparison to other myosins based on structural and functional differences."
Am. J. Med. Genet. 41:537-547(1991) [PubMed] [Europe PMC] [Abstract]

"Structural organization of the human cardiac alpha-myosin heavy chain gene (MYH6)."
Genomics 18:505-509(1993) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and analysis of human chromosome 14."
Nature 421:601-607(2003) [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]

"Characterization of human cardiac myosin heavy chain genes."
Proc. Natl. Acad. Sci. U.S.A. 86:3504-3508(1989) [PubMed] [Europe PMC] [Abstract]

Erratum
Proc. Natl. Acad. Sci. U.S.A. 86:7416-7417(1989)

"Human cardiac myosin heavy chain genes and their linkage in the genome."
Nucleic Acids Res. 15:5443-5459(1987) [PubMed] [Europe PMC] [Abstract]

"Molecular cloning and characterization of human cardiac alpha- and beta-form myosin heavy chain complementary DNA clones. Regulation of expression during development and pressure overload in human atrium."
J. Clin. Invest. 82:524-531(1988) [PubMed] [Europe PMC] [Abstract]

"Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly."
Circulation 105:446-451(2002) [PubMed] [Europe PMC] [Abstract]

"Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy."
Circulation 112:54-59(2005) [PubMed] [Europe PMC] [Abstract]

"Mutation in myosin heavy chain 6 causes atrial septal defect."
Nat. Genet. 37:423-428(2005) [PubMed] [Europe PMC] [Abstract]

"A rare variant in MYH6 is associated with high risk of sick sinus syndrome."
Nat. Genet. 43:316-320(2011) [PubMed] [Europe PMC] [Abstract]