SLC9A6

Chr XX-linkedXLD

solute carrier family 9 member A6

Also known as: MRSA, MRXSCH, NDPACX, NHE6

NCBI Gene: 10479 ENSG00000198689 UniProt: Q92581 OMIM: 300231

The protein is a sodium-hydrogen exchanger that localizes to early and recycling endosomes where it regulates endosomal pH and volume. Mutations cause X-linked syndromic intellectual developmental disorder (Christianson type) in males and X-linked neurodegenerative disorder with parkinsonism and cognitive impairment in females. Loss-of-function mutations disrupt endosomal function, leading to these distinct X-linked phenotypes that differ by sex.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a sodium-hydrogen exchanger that is amember of the solute carrier family 9. The encoded protein localizes to early and recycling endosomes and may be involved in regulating endosomal pH and volume. Defects in this gene are associated with X-linked syndromic cognitive disability, Christianson type. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Intellectual developmental disorder, X-linked syndromic, Christianson typeMIM #300243

X-linked

Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairmentMIM #301142

XLD

Clinical highlights

Gene-disease validity (ClinGen)

Christianson syndrome · XLDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.21

LOEUF· LoF intol.

LOF

Mechanism· G2P

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GeneReview available — SLC9A6