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Mouse Anti-GAMT Recombinant Antibody (CBLG1-3137) (CBMAB-G1881-LY)

This product is antibody recognizes GAMT. The antibody CBLG1-3137 immunoassay techniques such as: WB.
See all GAMT antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
CBLG1-3137
Antibody Isotype
IgG
Application
WB

Basic Information

Specificity
Human
Antibody Isotype
IgG
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Purity
> 95% Purity determined by SDS-PAGE.
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name
Guanidinoacetate N-Methyltransferase
Introduction
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]
Entrez Gene ID
2593
UniProt ID
Q14353
Alternative Names
Guanidinoacetate N-Methyltransferase; EC 2.1.1.2; Epididymis Secretory Protein Li 20; HEL-S-20; TP53I2; CCDS2; PIG2;
Function
Converts guanidinoacetate to creatine, using S-adenosylmethionine as the methyl donor (PubMed:26003046, PubMed:24415674, PubMed:26319512).

Important in nervous system development (PubMed:24415674).
Biological Process
Animal organ morphogenesis Source: Ensembl
Creatine biosynthetic process Source: UniProtKB
Creatine metabolic process Source: Reactome
Methylation Source: UniProtKB-KW
Muscle contraction Source: ProtInc
Regulation of multicellular organism growth Source: Ensembl
Spermatogenesis Source: Ensembl
Cellular Location
Cytosol; Nucleus; Cytoplasm
Involvement in disease
Cerebral creatine deficiency syndrome 2 (CCDS2):
An autosomal recessive disorder characterized by developmental delay and regression, mental retardation, severe disturbance of expressive and cognitive speech, intractable seizures, movement disturbances, severe depletion of creatine and phosphocreatine in the brain, and accumulation of guanidinoacetic acid in brain and body fluids.
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For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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