SLC10A3

Chr X

solute carrier family 10 member 3

Also known as: DXS253E, P3

NCBI Gene: 8273 ENSG00000126903 UniProt: P09131 OMIM: 312090

The protein encoded by this X-linked gene appears to have essential housekeeping functions based on its ubiquitous expression and evolutionary conservation across species. The gene shows moderate intolerance to loss-of-function variants (pLI 0.81), suggesting haploinsufficiency may be pathogenic, though specific disease associations and clinical phenotypes have not been established. X-linked inheritance would be expected for pathogenic variants in this gene.

OMIM ResearchSummary from RefSeq, UniProt

This gene maps to a GC-rich region of the X chromosome and was identified by its proximity to a CpG island. It is thought to be a housekeeping gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2008]

OMIM ResearchGenerating clinical summary…

LOEUF 0.55

Clinical Summary— SLC10A3

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Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.81) — some intolerance to loss-of-function variants.

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