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FLASH GENE

Symbol

MYH8

contributors: mct/npt - updated : 12-05-2010

HGNC name	myosin, heavy polypeptide 8, skeletal muscle, perinatal
HGNC id	7578

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CNCTP Carney complex associated to trismus-pseudocamptodactyly TPCS trismus-pseudocamptodactyly syndrome
Location	17p13.1      Physical location : 10.293.641 - 10.325.267
Synonym name	myosin heavy chain 8
	fetal-myosin heavy chain
	MyHC-perinatal
Synonym symbol(s)	MyHC-pn, MyHC-peri, gtMHC-F

DNA

TYPE	functioning gene
STRUCTURE	31.63 kb     40 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map

see MYH1

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002472 40 - 6038 NP_002463 - 1937 - Jullian (1995)

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine thyroid         Respiratory respiratory tract larynx       Urinary bladder

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone       Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

perinatal

Text	skeletal muscle, perinatal

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	globular head associating to the light chain and containing actin and ATP binding sites
	a neck containing IQ calmodulin or calmodulin-like light chain binding domain (the converter) connected to the base of a long alpha helical tail, (the liver)

HOMOLOGY

Homologene

FAMILY

CATEGORY

motor/contractile , structural protein

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,cytoskeleton,microfilament
text	thick filaments of the myofibrils

basic FUNCTION

motor contractile protein moving towards the "plus" end of actin track

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CNCTP , TPCS

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS