NSMCE3
Homo sapiens
Gene Name: NSE3 homolog, SMC5-SMC6 complex component
Aliases: HCA4; LICS; NSE3; NDNL2; MAGEG1; MAGEL3
Chromosome No: 15
Chromosome Band: 15q13.1
Genetic Category: Functional-Rare single gene variant
Aliases: HCA4; LICS; NSE3; NDNL2; MAGEG1; MAGEL3
Chromosome No: 15
Chromosome Band: 15q13.1
Genetic Category: Functional-Rare single gene variant
Summary Statistics:
ASD Reports: 5
Recent Reports: 1
Annotated variants: 3
Associated CNVs: 11
Evidence score: 0
ASD Reports: 5
Recent Reports: 1
Annotated variants: 3
Associated CNVs: 11
Evidence score: 0
| Associated Disorders: |
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Relevance to Autism
One study concluded that although NSMCE3 (formerly known as NDNL2) is in the broadly defined chromosome 15 autistic disorder susceptibility region, it is not likely to be pathogenic based on its wide expression pattern and lack of imprinted expression (Chibuk, Bischof and Wevrick 2001).
Molecular Function
The protein encoded by this gene is part of the SMC5-6 chromatin reorganizing complex and is a member of the MAGE superfamily. The encoded protein plays a role in regulation of cell growth.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A necdin/MAGE-like gene in the chromosome 15 autism susceptibility region: expression, imprinting, and mapping of the human and mouse orthologues.
ASD
Highly Cited
Physical and functional interactions of neuronal growth suppressor necdin with p53.
Recent Recommendation
Necdin promotes GABAergic neuron differentiation in cooperation with Dlx homeodomain proteins.
