GATM, Polyclonal Antibody

Glycine amidinotransferase; mitochondrial; L-arginine:glycine amidinotransferase; Transamidinase; GATM; AGAT

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

Rabbit Ig

Rabbit

This GATM antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 350-378 amino acids from the C-terminal region of human GATM.

Peptide Affinity Purified Rabbit Polyclonal Antibody (Pab)

Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification.

Vial Concentration: 0.46 (lot specific)

Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C in small aliquots to prevent freeze-thaw cycles.

Small volumes of anti-GATM antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

This gene encodes a mitochondrial enzyme that belongs to
the amidinotransferase family. This enzyme is involved in creatine
biosynthesis, whereby it catalyzes the transfer of a guanido group
from L-arginine to glycine, resulting in guanidinoacetic acid, the
immediate precursor of creatine. Mutations in this gene cause
arginine:glycine amidinotransferase deficiency, an inborn error of
creatine synthesis characterized by mental retardation, language
impairment, and behavioral disorders.

Metabolism; Signal Transduction

Western Blot (WB), ELISA (EIA)

WB~~1:1000

GATM Antibody (C-term) western blot analysis in A549 cell line lysates (35ug/lane).This demonstrates the GATM antibody detected the GATM protein (arrow).

48455

glycine amidinotransferase (L-arginine:glycine amidinotransferase)

glycine amidinotransferase, mitochondrial

Glycine amidinotransferase, mitochondrial

AGAT  [Similar Products]

GATM_HUMAN

This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by mental retardation, language impairment, and behavioral disorders. [provided by RefSeq, Jul 2008]

GATM: Catalyzes the biosynthesis of guanidinoacetate, the immediate precursor of creatine. Creatine plays a vital role in energy metabolism in muscle tissues. May play a role in embryonic and central nervous system development. May be involved in the response to heart failure by elevating local creatine synthesis. Defects in GATM are the cause of arginine:glycine amidinotransferase deficiency (AGAT deficiency). AGAT deficiency is an autosomal recessive disorder characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain. Belongs to the amidinotransferase family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 2.1.4.1; Mitochondrial; Amino Acid Metabolism - glycine, serine and threonine; Amino Acid Metabolism - arginine and proline; Transferase

Chromosomal Location of Human Ortholog: 15q21.1

Cellular Component: mitochondrial inner membrane; mitochondrial intermembrane space

Molecular Function: hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines; glycine amidinotransferase activity

Biological Process: response to mercury ion; creatine biosynthetic process; response to peptide hormone stimulus; tissue regeneration; response to oxidative stress; creatine metabolic process; response to nutrient

Disease: Cerebral Creatine Deficiency Syndrome 3

Kottgen, A., et al. Nat. Genet. 42(5):376-384(2010)
Kottgen, A., et al. Nat. Genet. 41(6):712-717(2009)
Lion-Francois, L., et al. Neurology 67(9):1713-1714(2006)
Cullen, M.E., et al. Circulation 114 (1 SUPPL), I16-I20 (2006) :
Battini, R., et al. J. Pediatr. 148(6):828-830(2006)

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