ABCA10
Homo sapiens
Gene Name: ATP-binding cassette, sub-family A (ABC1), member 10
Aliases: EST698739
Chromosome No: 17
Chromosome Band: 17q24.3
Genetic Category: Rare single gene variant
Aliases: EST698739
Chromosome No: 17
Chromosome Band: 17q24.3
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 7
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 7
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A recurrent homozygous nonsense variant in the ABCA10 gene (p.Arg1322Ter) was found to segregate with ASD in two out of four multiplex families (Lim et al., 2013).
Molecular Function
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. The probable transporter encoded by this gene may play a role in macrophage lipid homeostasis.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN749R007
frameshift_variant
c.3795_3813del
p.Gln1266Ter
Familial
Paternal
Multiplex
GEN749R008
frameshift_variant
c.2836del
p.Val946PhefsTer7
Familial
Maternal
Multiplex
Common
No Common Variants Available