Aliases: FSGS6, HuncM-IC, MYO1C
Chromosome No: 15
Chromosome Band: 15q22.2
Genetic Category: Rare single gene variant
ASD Reports: 6
Recent Reports: 1
Annotated variants: 11
Associated CNVs: 7
Evidence score: 3
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Relevance to Autism
A de novo loss-of-function (LoF) variant and two de novo missense variants (one of which was not present in external databases and was predicted in silico to be damaging) were identified in the MYO1E gene in ASD probands from the Simons Simplex Collection (Iossifov et al., 2014). TADA-Denovo analysis using a combined dataset of previously published cohorts from the Simons Simplex Collection and the Autism Sequencing Consortium, as well as a novel cohort of 262 Japanese ASD trios, in Takata et al., 2018 identified MYO1E as a gene significantly enriched in damaging de novo mutations in ASD cases (pBH < 0.05).
Molecular Function
This gene encodes a member of the nonmuscle class I myosins which are a subgroup of the unconventional myosin protein family. The unconventional myosin proteins function as actin-based molecular motors. Class I myosins are characterized by a head (motor) domain, a regulatory domain and a either a short or long tail domain. Among the class I myosins, this protein is distinguished by a long tail domain that is involved in crosslinking actin filaments. This protein localizes to the cytoplasm and may be involved in intracellular movement and membrane trafficking. Mutations in this gene are the cause of focal segmental glomerulosclerosis-6.
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