SLC26A1 across dismech

SLC26A1 (solute carrier family 26 member 1) is named by 2 disorder entries.

Normal function

The ai-gene-review snapshot this page reads holds 0 core-function terms for SLC26A1; an upstream review of the gene is in progress.

Causative records

Both entries that name SLC26A1 type it as causative: SLC26A1-Related Hypersulfaturia; and SLC26A1-Related Oxalate Transporter Deficiency.

The hypersulfaturia entry records the variants as germline with functional impact loss of function, on the node Biallelic SLC26A1 Sulfate Transporter Loss of Function. Loss of basolateral sulfate exchange in the proximal tubule causes renal sulfate wasting and hyposulfatemia, the best-established human consequence.

The stone entry records its variants as germline on the node Biallelic SLC26A1 Transporter Dysfunction, and records that the oxalate mechanism behind calcium oxalate stones is contested.

Across both entries the gene's nodes are annotated with oxalate transport; and sulfate transmembrane transport. ClinGen classifies SLC26A1 for 0 diseases, so no validity tier can be copied onto either record.

Where the layers disagree

Because the function snapshot is empty, the KB nodes and ai-gene-review share 0 GO terms. The upstream review gives sulfate transmembrane transport as a core process, so the overlap should appear once the snapshot is refreshed.