人 DCLRE1C (NM_001033857) cDNA克隆

Accession: NM_001033857
基因名称: DCLRE1C
基因别名: SCIDA; SNM1C; A-SCID; hSNM1C; RS-SCID; DCLREC1C
基因描述: Homo sapiens DNA cross-link repair 1C (DCLRE1C), transcript variant d, mRNA.
种属: Human
CDS区长度: 1719 (查看编码区序列)
翻译后氨基酸长度: 572 (查看氨基酸序列)
Transcript Variant: This variant (d), also called variant 1, includes an alternate exon in the 5' UTR resulting in use of a downstream in-frame start codon, compared to variant a. Variant d encodes isoform d which is shorter than isoform a.
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G118851 人 DCLRE1C (NM_001033857) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins when complexed with protein kinase, DNA-activated, catalytic polypeptide. Mutations in this gene cause Athabascan-type severe combined immunodeficiency (SCIDA). [provided by RefSeq, Jul 2008]