人 GAMT (NM_138924) cDNA克隆

基本信息

Accession: NM_138924
基因名称: GAMT
基因别名: PIG2; CCDS2; TP53I2
基因描述: Homo sapiens guanidinoacetate N-methyltransferase (GAMT), transcript variant 2, mRNA.
种属: Human
CDS区长度: 810 (查看编码区序列)
翻译后氨基酸长度: 269 (查看氨基酸序列)
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.

订购信息

产品编号 产品名称 载体 规格 价格
G121102 人 GAMT (NM_138924) cDNA克隆 pDONR223 2ug质粒 点击询价

载体信息

pDONR223载体图谱

相关转录本

人 GAMT (NM_000156) cDNA克隆 transcript variant 1
人 GAMT (NM_138924) cDNA克隆 transcript variant 2

基因简介

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]

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