Anti-GAMT Antibody (CAB6597)

Antibody Name:	Anti-GAMT Antibody
Antibody SKU:	CAB6597
Antibody Size:	20uL, 50uL, 100uL
Application:	WB IHC IF
Reactivity:	Human, Mouse, Rat
Host Species:	Rabbit
Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 1-236 of human GAMT (NP_000147.1).

Application:	WB IHC IF
Recommended Dilution:	WB 1:500 - 1:2000 IHC 1:50 - 1:200 IF 1:50 - 1:200
Reactivity:	Human, Mouse, Rat
Positive Samples:	HepG2, Jurkat, HeLa, 293T, Mouse liver, Rat liver, Rat brain

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 1-236 of human GAMT (NP_000147.1).
Purification Method:	Affinity purification
Storage Buffer:	Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:	IgG
Sequence:	MSAP SATP IFAP GENC SPAW GAAP AAYD AADT HLRI LGKP VMER WETP YMHA LAAA ASSK GGRV LEVG FGMA IAAS KVQE APID EHWI IECN DGVF QRLR DWAP RQTH KVIP LKGL WEDV APTL PDGH FDGI LYDT YPLS EETW HTHQ FNFI KNHA FRLL KPGG VLTY CNLT SWGE LMKS KYSD ITIM FEET QVPA LLEA GFRR ENIR TEVM ALVP PADC RYYA FPQM ITPL VTKG
Gene ID:	2593
Uniprot:	Q14353
Cellular Location:
Calculated MW:	26kDa/29kDa
Observed MW:	29kDa

Synonyms:

GAMT, CCDS2, HEL-S-20, PIG2, TP53I2

Background:

The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13.

UniProt Protein Function:	GAMT: Defects in GAMT are the cause of guanidinoacetate methyltransferase deficiency (GAMT deficiency). GAMT deficiency is an autosomal recessive disorder characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, intractable seizures and movement disturbances, severe depletion of creatine/phosphocreatine in the brain, and accumulation of guanidinoacetic acid (GAA) in brain and body fluids. Belongs to the class I-like SAM-binding methyltransferase superfamily. RMT2 methyltransferase family. 2 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:	Protein type:Contractile; Methyltransferase; Amino Acid Metabolism - glycine, serine and threonine; EC 2.1.1.2; Amino Acid Metabolism - arginine and proline Chromosomal Location of Human Ortholog: 19p13.3 Cellular Component: cytosol Molecular Function:methyltransferase activity; guanidinoacetate N-methyltransferase activity Biological Process: methylation; creatine biosynthetic process; organ morphogenesis; muscle contraction; regulation of multicellular organism growth; spermatogenesis; creatine metabolic process Disease: Cerebral Creatine Deficiency Syndrome 2
NCBI Summary:	The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13. [provided by RefSeq, Feb 2012]
UniProt Code:	Q14353
NCBI GenInfo Identifier:	2498404
NCBI Gene ID:	2593
NCBI Accession:	Q14353.1
UniProt Secondary Accession:	Q14353,Q53Y34, Q8WVJ1, A8K0A0,
UniProt Related Accession:	Q14353
Molecular Weight:	236
NCBI Full Name:	Guanidinoacetate N-methyltransferase
NCBI Synonym Full Names:	guanidinoacetate N-methyltransferase
NCBI Official Symbol:	GAMT
NCBI Official Synonym Symbols:	PIG2; CCDS2; TP53I2; HEL-S-20
NCBI Protein Information:	guanidinoacetate N-methyltransferase; epididymis secretory protein Li 20
UniProt Protein Name:	Guanidinoacetate N-methyltransferase
Protein Family:	Guanidinoacetate N-methyltransferase
UniProt Gene Name:	GAMT
UniProt Entry Name:	GAMT_HUMAN

	Western blot analysis of extracts of various cell lines, using GAMT antibody (CAB6597) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 90s.
	Immunohistochemistry of paraffin-embedded human liver using GAMT Rabbit pAb (CAB6597) at dilution of 1:500 (40x lens).
	Immunofluorescence analysis of U2OS cells using GAMT antibody (CAB6597). Blue: DAPI for nuclear staining.

Antibodies

GAMT Antibody (PACO09408)

Secondary Antibody

Anti-HRP Goat Anti-Rabbit IgG (H+L) Antibody (CABS014)