- accession:NM_001173534
- 基因别名:DGCR2
- 基因描述:Homo sapiens DiGeorge syndrome critical region gene 2 (DGCR2), transcript variant 3, mRNA.
- 载体:现货载体
- CDS区长度:1521
- 翻译后氨基酸长度:506
- TranscriptVariant: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.
- 基因简介: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]
- 规格:10ul 质粒
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