人 DGCR2 (NM_001173534) cDNA克隆

Accession: NM_001173534
基因名称: DGCR2
基因别名: IDD; LAN; DGS-C; SEZ-12
基因描述: Homo sapiens DiGeorge syndrome critical region gene 2 (DGCR2), transcript variant 3, mRNA.
种属: Human
CDS区长度: 1521 (查看编码区序列)
翻译后氨基酸长度: 506 (查看氨基酸序列)
Transcript Variant: This variant (3) lacks an alternate in-frame exon and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The resulting isoform (3) lacks two internal segments, compared to isoform 1.
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G112198 人 DGCR2 (NM_001173534) cDNA克隆 pDONR223 2ug质粒 点击询价

Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. The DGCR2 gene encodes a novel putative adhesion receptor protein, which could play a role in neural crest cells migration, a process which has been proposed to be altered in DiGeorge syndrome. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]