SLC26A1

Chr 4AR

solute carrier family 26 member 1

Also known as: CAON, CAON1, EDM4, HYSULF, SAT-1, SAT1

This gene is a member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures, but have markedly different tissue expression patterns. This gene is primarily expressed in the liver, pancreas, and brain. Three splice variants that encode different isoforms have been identified. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?HypersulfaturiaMIM #620372
AR
?Nephrolithiasis, calcium oxalate, 1MIM #167030
AR
0
Active trials
7
Pubs (1 yr)
P/LP submissions
P/LP missense
1.48
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.48LOEUF
pLI 0.000
Z-score 0.04
OE 0.99 (0.681.48)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.37Z-score
OE missense 0.95 (0.881.03)
477 obs / 500.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.99 (0.681.48)
00.351.4
Missense OE?0.95 (0.881.03)
00.61.4
Synonymous OE?1.02
01.21.6
LoF obs/exp: 17 / 17.2Missense obs/exp: 477 / 500.1Syn Z: -0.20

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SLC26A1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →