AZGP1
Homo sapiens
Gene Name: alpha-2-glycoprotein 1, zinc-binding
Aliases: ZA2G, ZAG
Chromosome No: 7
Chromosome Band: 7q22.1
Genetic Category: Rare single gene variant
Aliases: ZA2G, ZAG
Chromosome No: 7
Chromosome Band: 7q22.1
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 3
Evidence score: 2
ASD Reports: 4
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 3
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Two non-synonymous postzygotic mosaic mutations (PZMs) in the gene were identified in ASD probands in Lim et al., 2017; comparison with a background set of 84,448 privately inherited variants demonstrated that this gene harbored more PZMs than expected based on background rates (2/571 observed vs. 4/84,448 expected; hypergeometric P-value of 2.7E-04). A de novo frameshift variant in the AZGP1 gene was identified by whole genome sequencing in an ASD proband from a multiplex family in Yuen et al., 2017.
Molecular Function
Stimulates lipid degradation in adipocytes and causes the extensive fat losses associated with some advanced cancers. May bind polyunsaturated fatty acids.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
ASD
