人 PCMT1 (NM_001252052) cDNA克隆

Accession: NM_001252052
基因名称: PCMT1
基因别名: PIMT
基因描述: Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase (PCMT1), transcript variant 5, mRNA.
种属: Human
CDS区长度: 756 (查看编码区序列)
翻译后氨基酸长度: 251 (查看氨基酸序列)
Transcript Variant: This variant (5) lacks an in-frame coding exon and uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (5) is shorter and has a distinct C-terminus, compared to isoform 1.
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G121126 人 PCMT1 (NM_001252052) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a member of the type II class of protein carboxyl methyltransferase enzymes. The encoded enzyme plays a role in protein repair by recognizing and converting D-aspartyl and L-isoaspartyl residues resulting from spontaneous deamidation back to the normal L-aspartyl form. The encoded protein may play a protective role in the pathogenesis of Alzheimer's disease, and single nucleotide polymorphisms in this gene have been associated with spina bifida and premature ovarian failure. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]