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FB2026_01
,
released March 12, 2026
This report describes autism spectrum disorder, susceptibility to, AGAP1-related. The human gene implicated is AGAP1, which encodes ArfGAP with GTPase domain, ankyrin repeat and PH domain 1, a member of an ADP-ribosylation factor GTPase-activating protein family. There is one high-scoring fly ortholog, Dmel\CenG1A, for which multiple genetic reagents, including an amorphic allele, RNAi-targeting constructs, and alleles caused by insertional mutagenesis have been generated.
The human gene AGAP1 has not been introduced into flies.
Homozygous null mutations in DmelCenG1A exhibit abnormalities in axon terminal morphology, distribution of neuronal endosomes, and diminished capacity to respond to extraneous stressors.
[updated Apr. 2025 by FlyBase; FBrf0222196]
Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996, pubmed:8655659; Risch et al., 1999, pubmed:10417292). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (MIM:608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008; pubmed:18698615). [from MIM:209850; 2017.03.18]
A cohort of 10 individuals bearing missense variants or deletions in the gene AGAP1 exhibited intellectual disability/developmental delay, language impairments, autism spectrum disorder, aggression, and impaired length, weight and cranial growth; some additionally exhibited epilepsy, dystonia and/or axial hypotonia, brain growth abnormalities, eye abnormalities, and/or skeletal defects (Lewis, et al., 2023; pubmed:37470098; FBrf0257689).
AGAP1 encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Many to one (many human to 1 Drosophila); AGAP1 has one high-scoring Drosophila ortholog, CenG1A.
High-scoring ortholog of human AGAP1 and AGAP3, moderate scoring ortholog of human AGAP2, AGAP4, AGAP5, AGAP6, AGAP9, and AGAP11 (1 Drosophila to many human).