SLC9A6 (Sodium/hydrogen exchanger 6) variants and mutations

SLC9A6 (also known as Sodium/hydrogen exchanger 6) is a human protein-coding gene encoding a sodium/hydrogen exchanger 6 protein. It regulates endosomal pH and trafficking in neurons and other cells by exchanging luminal protons for cytosolic sodium or potassium. Loss-of-function variants cause Christianson syndrome, with severe developmental impairment, absent speech, epilepsy, ataxia, and acquired microcephaly. This analysis covers 351 SLC9A6 variants and mutations. Of these, 87% have computational variant effect predictions. Disease context includes Christianson syndrome, Intellectual disability, and hereditary disease. Example SLC9A6 variants include M1K, M1R, and M1V.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable SLC9A6 variants

Examples include M1K, M1R, M1V, A2V, A2D, R3R, R3G, R3W. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.