DSCAM

该基因是细胞粘附分子免疫球蛋白超家族(ig-cams)的成员,参与人类中枢和外周神经系统的发育。该基因是唐氏综合征和先天性心脏病(dschd)的候选基因。编码类似Ig-CAM蛋白的基因位于11号染色体上另外,已经观察到该基因编码多个亚型的剪接转录变体。[由RefSeq提供,2012年10月]
This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]

别名

CHD2,CHD2-42,CHD2-52

基因id

Chromosome:21 Start: 41384343 End: 42219039 Strand: 

药物

突变与药物

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