AGBL4
Homo sapiens
Gene Name: ATP/GTP binding protein-like 4
Aliases: RP11-342A17.1, CCP6
Chromosome No: 1
Chromosome Band: 1p33
Genetic Category: Rare Single Gene variant
Aliases: RP11-342A17.1, CCP6
Chromosome No: 1
Chromosome Band: 1p33
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 16
Associated CNVs: 1
Evidence score: null
ASD Reports: 3
Recent Reports: 0
Annotated variants: 16
Associated CNVs: 1
Evidence score: null
| Associated Disorders: |
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Relevance to Autism
Rare deletions involving the AGBL4 gene have been identified in individuals with ASD (Pinto et al., 2010).
Molecular Function
Metallocarboxypeptidase that mediates deglutamylation of target proteins such as tubulins and MYLK.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Functional impact of global rare copy number variation in autism spectrum disorders.
ASD
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
ASD
ID
