The protein encoded by this gene is a member of the L1 gene family of neural cell adhesion molecules. It is a neural recognition molecule that may be involved in signal transduction pathways. The deletion of one copy of this gene may be responsible for mental defects in patients with 3p- syndrome. This protein may also play a role in the growth of certain cancers. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Nov 2011]
None
CHL1基因(以及对应的蛋白质)的细胞分布位置:
CHL1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Schizophrenia | 0.129629949 | 8 | 0 | BeFree_CTD_human_GAD_LHGDN |
Chromosome 3, monosomy 3p | 0.120814326 | 3 | 0 | BeFree_ORPHANET |
Intellectual Disability | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Obesity | 0.12 | 1 | 1 | GWASCAT |
Angiomyolipoma | 0.00272435 | 1 | 0 | LHGDN |
Epithelial ovarian cancer | 0.002367032 | 1 | 0 | GAD |
Sudden Cardiac Death | 0.002367032 | 1 | 1 | GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Central neuroblastoma | 0.001628651 | 6 | 0 | BeFree |
Neuroblastoma | 0.001628651 | 6 | 0 | BeFree |
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