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FLASH GENE

Symbol

GAMT

contributors: mct/npt - updated : 07-01-2009

HGNC name	guanidinoacetate N-methyltransferase
HGNC id	4136

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	GAMTD guanidinoacetate N-methyltransferase deficiency
Location	19p13.3      Physical location : 1.397.088 - 1.401.552
Synonym symbol(s)	PIG2, TP53I2
EC.number	2.1.1.2

DNA

TYPE	functioning gene
STRUCTURE	4.46 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed GAMT IA 6 - 1086 26.3 236 - Komoto, Almeida (2006) GAMT IB - - 960 - 269 - Komoto, Almeida (2006)

EXPRESSION

Type

widely

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 Cardiovascular heart       highly Digestive liver       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic         Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic leukocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

monomer

HOMOLOGY

interspecies	ortholog to murine Gamt
	ortholog to rattus gamt

Homologene

FAMILY

RMT2 methyltransferase family

CATEGORY

enzyme , motor/contractile

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION

catalyzing the second and final step of the synthesis of creatine i.e. the transfer of a methyl group S-adenosylmethionine to guanidinoacetate

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

aminoacid , energetic

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

GAMTD

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS