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Home TrueClone GAMT Clone

GAMT (NM_138924) Human cDNA Clone

Specifications Citations Clones of Other Species Product Documents
SKU Description Price Availibility*  
SC120642 GAMT (untagged)-Human guanidinoacetate N-methyltransferase (GAMT), transcript variant 2 (10ug), NM_138924.1, 10ug $580 4 weeks
TF81001 TurboFectin, High performance Transfection reagent (1ml/vial) $420 In Stock
TA310514 Rabbit Monoclonal antibody against GAMT, 100ul $325 3-7 Days
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OriGene Data
Vector:pCMV6-XL4 Insert Size: 1250 Restriction Site: NotI-NotI
Sequence Data: Fully Sequenced ORF          5' Read Nucleotide Sequence         
OTI Disclaimer: Our molecular clone sequence data has been matched to the reference identifier above as a point of reference. Note that the complete sequence of our molecular clones may differ from the sequence published for this corresponding reference, e.g., by representing an alternative RNA splicing form or single nucleotide polymorphism (SNP).
Product Components: The cDNA clone is shipped in a 2-D bar-coded Matrix tube as dried plasmid DNA. The package also includes 100 pmols of both the corresponding 5' and 3' vector primers in separate vials. Every lot of primer is tested to provide clean sequencing of OriGene TrueClones.
Protein Families: Druggable Genome
Protein Pathways: Glycine, serine and threonine metabolismArginine and proline metabolismMetabolic pathways
Reference Data
RefSeq: NM_138924.1, NP_620279
RefSeq Size: 960 RefSeq ORF: 810
Synonyms : CCDS2; HEL-S-20; PIG2; TP53I2
LocusID: 2593 Cytogenetic: 19p13.3
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].

Transcript Variant: This variant (2) lacks the 3'-most exon and fails to utilize the 3' splice donor site of the penultimate exon as compared to transcript variant 1. As a result, variant 2 encodes isoform b, which is longer and contains a distinct C-terminus, compared to isoform a.

* Delivery time is an estimate in business days. Occasional delays may occur due to unforeseen complexities in the preparation of your construct. International customers may expect an additional 1-2 weeks in shipping

 

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