Aliases: HPK1
Chromosome No: 19
Chromosome Band: 19q13.2
Genetic Category: Rare single gene variant-Rare single gene variant/Functional
ASD Reports: 5
Recent Reports: 1
Annotated variants: 4
Associated CNVs: 1
Evidence score: 2
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Relevance to Autism
De novo variants in the MAP4K1 gene have been identified in ASD probands, including a de novo missense variant (p.Met725Thr) in a proband from the Simons Simplex Collection (Iossifov et al., 2014; Sanders et al., 2015; Yuen et al., 2017). Functional assessment of the ASD-associated p.Met725Thr missense variant in Drosophila using an overexpression-based strategy in Macrogliese et al., 2020 demonstrated that flies overexpressing MAP4K1-p.Met725Thr presented with a complex phenotype characterized by a loss-of-function effect in eyes and a gain-of-function effect in wings.
Molecular Function
Enables ATP binding activity and MAP kinase kinase kinase kinase activity. Involved in several processes, including JNK cascade; cellular response to phorbol 13-acetate 12-myristate; and protein phosphorylation.
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