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FLASH GENE

Symbol

CHRNG

contributors: mct - updated : 14-09-2013

HGNC name	cholinergic receptor, nicotinic, gamma polypeptide
HGNC id	1967

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	6.61 kb     12 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005199 12 - 2187 NP_005190 - 517 - -

EXPRESSION

Type

expressed in	(based on citations)
organ(s)

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal

Text	fetal and denervated muscle

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a large N terminal extracellular domain
	four transmembrane segments (4TM) with the M2 domain comprising the cation-selective pore

HOMOLOGY

Homologene

FAMILY

cholinergic receptor family

CATEGORY

receptor , transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
text	postsynaptic membrane

basic FUNCTION	responding, after binding acetylcholine, by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane
	required for the formation of pre-patterned AChR (acetylcholine receptor) clusters, which in turn play an essential role in determining the subsequent pattern of neuromuscular synaptogenesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MPTSE , MPTLT1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   of CHRNG, CHRND, NCAM1, RUNX1 associated with neuromuscular junction denervation in ageing

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS