DCTN5
Homo sapiens
Gene Name: dynactin 5
Aliases: MGC3248
Chromosome No: 16
Chromosome Band: 16p12.2
Genetic Category: Rare Single Gene variant
Aliases: MGC3248
Chromosome No: 16
Chromosome Band: 16p12.2
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 1
Annotated variants: 2
Associated CNVs: 3
Evidence score: 2
ASD Reports: 4
Recent Reports: 1
Annotated variants: 2
Associated CNVs: 3
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Rare mutations in the DCTN5 gene have been identified with autism (O'Roak et al., 2011).
Molecular Function
Transferase activity
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
ASD
Highly Cited
Analysis of dynactin subcomplexes reveals a novel actin-related protein associated with the arp1 minifilament pointed end.
Recent Recommendation
Knockdown of mental disorder susceptibility genes disrupts neuronal network physiology in vitro.
