SULT4A1

Chr 22

sulfotransferase family 4A member 1

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

NCBI Gene: 25830 ENSG00000130540 UniProt: Q9BR01

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.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the sulfotransferase family. The encoded protein is a brain-specific sulfotransferase believed to be involved in the metabolism of neurotransmitters. Polymorphisms in this gene may be associated with susceptibility to schizophrenia. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.32

LOEUF· LoF intol.

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429