Aliases: CHAK2, HMGX, HOMG, HOMG1, HSH
Chromosome No: 9
Chromosome Band: 9q21.13
Genetic Category: Rare single gene variant-Rare single gene variant/Functional
ASD Reports: 6
Recent Reports: 1
Annotated variants: 13
Associated CNVs: 12
Evidence score: 3
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Relevance to Autism
De novo variants in the TRPM6 gene have been identified in ASD probands, including two de novo missense variants (p.Ala641Glu and p.Thr2011Pro) in probands from the Simons Simplex Collection and a de novo nonsense variant in a proband from the MSSNG cohort (Iossifov et al., 2014; Yuen et al., 2016). Functional assessment of the two ASD-associated missense variants originally identified in probands from the Simons Simplex Collection in Drosophila using a rescue-based strategy in Macrogliese et al., 2022 demonstrated that both mutations resulted in a reduced ability to rescue TG4 lethality in humanized flies compared with reference animals, consistent with a loss-of-function effect.
Molecular Function
This gene is predominantly expressed in the kidney and colon, and encodes a protein containing an ion channel domain and a protein kinase domain. It is crucial for magnesium homeostasis, and plays an essential role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Biallelic variants in this gene are associated with hypomagnesemia with secondary hypocalcemia (OMIM 602014); seizures have been observed in affected individuals.
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