NMT1N-myristoyltransferase 1
Autism Reports / Total Reports
4 / 4Rare Variants / Common Variants
3 / 0Aliases
-Associated Syndromes
-Chromosome Band
17q21.31Associated Disorders
-Relevance to Autism
To evaluate the effects of ASD-associated de novo variants in a family relative context, Kim et al., 2025 defined within-family standardized deviations (WFSD) by subtracting phenotype scores of unaffected family members and standardizing the result in 21,735 families from three ASD cohorts (the Korean Autism cohort, the Simons Simplex Collection, and SPARK); their analysis found that more genes enriched in de novo damaging protein-truncating variants (LOEUF < 0.37) and missense variants (MPC > 2) were identified using WFSD compared to raw phenotype scores, with 38 genes uniquely identified in the WFSD group, including the NMT1 gene. De novo loss-of-function variants in NMT1 have been reported in ASD probands from the Simons Simplex Collection and the MSSNG cohort, and a de novo missense variant in this gene was reported in an ASD proband from the Autism Sequencing Consortium (Iossifov et al., 2014; Satterstrom et al., 2020; Trost et al., 2022).
Molecular Function
Myristate, a rare 14-carbon saturated fatty acid, is cotranslationally attached by an amide linkage to the N-terminal glycine residue of cellular and viral proteins with diverse functions. N-myristoyltransferase (NMT; EC 2.3.1.97) catalyzes the transfer of myristate from CoA to proteins. N-myristoylation appears to be irreversible and is required for full expression of the biologic activities of several N-myristoylated proteins, including the alpha subunit of the signal-transducing guanine nucleotide-binding protein (G protein) GO (GNAO1; MIM 139311)
SFARI Genomic Platforms
Reports related to NMT1 (4 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Support | The contribution of de novo coding mutations to autism spectrum disorder | Iossifov I et al. (2014) | Yes | - |
| 2 | Support | Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism | Satterstrom FK et al. (2020) | Yes | - |
| 3 | Support | - | Trost B et al. (2022) | Yes | - |
| 4 | Primary | - | Soo-Whee Kim et al. (2025) | Yes | - |
Rare Variants (3)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| c.131+1G>A | p.? | splice_site_variant | De novo | - | Multiplex | 36368308 | Trost B et al. (2022) | |
| c.1096A>C | p.Met366Leu | missense_variant | De novo | - | - | 31981491 | Satterstrom FK et al. (2020) | |
| c.613_625del | p.Gly205SerfsTer35 | frameshift_variant | De novo | - | Simplex | 25363768 | Iossifov I et al. (2014) |
Common Variants
No common variants reported.