SULT4A1

Chr 22

sulfotransferase family 4A member 1

Also known as: BR-STL-1, BRSTL1, DJ388M5.3, NST, SULTX3, hBR-STL-1

The protein is a brain-specific sulfotransferase involved in the metabolism of neurotransmitters and drugs in the central nervous system. SULT4A1 is highly constrained against loss-of-function variants, but definitive disease associations with mutations in this gene have not been established in pediatric patients. The gene shows polymorphisms that may be associated with susceptibility to schizophrenia, but causal relationships remain unclear.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.32
Clinical SummarySULT4A1
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.97). One damaged copy is likely sufficient to cause disease.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint
0.32LOEUF
pLI 0.966
Z-score 3.33
OE 0.07 (0.020.32)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
2.66Z-score
OE missense 0.43 (0.350.52)
74 obs / 172.2 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.07 (0.020.32)
00.351.4
Missense OE0.43 (0.350.52)
00.61.4
Synonymous OE0.97
01.21.6
LoF obs/exp: 1 / 14.9Missense obs/exp: 74 / 172.2Syn Z: 0.20

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SULT4A1 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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