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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.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN167R001 
 gene_variant 
 T42C 
  
  
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
15
Duplication
 2
 
15
Duplication
 2
 
15
Deletion
 1
 
15
Duplication
 66
  construct
15
Duplication
 5
 
15
Duplication
 14
 
15
Duplication
 3
 
15
Duplication
 4
 
15
Deletion-Duplication
 13
 
15
Deletion-Duplication
 13
 
15
Deletion
 18
 

No Animal Model Data Available

No PIN Data Available
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