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9 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SPTSSB
serine palmitoyltransferase small subunit B
Chromosome 3 · 3q26.1
NCBI Gene: 165679Ensembl: ENSG00000196542.10HGNC: HGNC:24045UniProt: Q6ZWB5
6PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
serine palmitoyltransferase complexserine C-palmitoyltransferase activityprotein bindingsphingosine biosynthetic processliver diseaseAbnormality of the skeletal systemexostosisexercise
✦AI Summary

SPTSSB (serine palmitoyltransferase small subunit B) is a regulatory component of the serine palmitoyltransferase (SPT) complex that catalyzes the initial and rate-limiting step of sphingolipid biosynthesis by condensing L-serine with activated acyl-CoA to form long-chain bases 1. Within the multi-subunit SPT complex, SPTSSB stimulates catalytic activity and determines substrate specificity, with different SPTSSB-containing complexes showing preferences for distinct acyl-CoA chain lengths; the SPTLC1-SPTLC2-SPTSSB complex preferentially uses C18-CoA, while SPTLC1-SPTLC3-SPTSSB displays broader substrate utilization 1. SPTSSB plays a critical role in regulating sphingolipid long-chain base diversity in tissues including skin and urinary bladder 23. Dysregulation of SPTSSB has been implicated in multiple disease states: a mutation increasing C20 long-chain base production causes neurodegeneration with axonal damage 4; elevated SPTSSB expression associates with increased plasma ceramides and Parkinson's disease risk 5; and SPTSSB appears as a predictive biomarker for intervertebral disc degeneration 6 and Alzheimer's disease 7. SPTSSB represents a viable therapeutic target, with covalent xanthone inhibitors successfully reducing sphingolipid levels in vitro and in vivo 8, suggesting therapeutic potential in diseases involving pathological sphingosine-1-phosphate signaling.

Sources cited
1
SPTSSB is a component of SPT complex that catalyzes sphingolipid biosynthesis and determines substrate specificity
PMID: 19416851
2
SPTSSB is involved in regulating long-chain base diversity in stratum corneum ceramides
PMID: 35654151
3
SPTSSB shows significant expression in urinary bladder epithelium and contributes to phytoceramide generation
PMID: 36441023
4
SPTSSB mutation elevating C20 long-chain bases results in neurodegeneration and axon damage
PMID: 26438849
5
SPTSSB genetic variants associate with increased brain expression, elevated plasma ceramides, and Parkinson's disease risk
PMID: 41627849
6
SPTSSB is a predictive biomarker for intervertebral disc degeneration
PMID: 35409356
7
SPTSSB is dysregulated in Alzheimer's disease and involved in AD-related pathological mechanisms
PMID: 37187245
8
SPTSSB is a viable therapeutic target with selective xanthone inhibitors reducing sphingolipid levels in vitro and in vivo
PMID: 32330443
Disease Associationsⓘ20
liver diseaseOpen Targets
0.30Weak
Abnormality of the skeletal systemOpen Targets
0.22Weak
exostosisOpen Targets
0.11Weak
exerciseOpen Targets
0.09Suggestive
age-related macular degenerationOpen Targets
0.07Suggestive
X-linked retinal dysplasiaOpen Targets
0.07Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.06Suggestive
retinitis pigmentosaOpen Targets
0.06Suggestive
MODYOpen Targets
0.05Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.05Suggestive
Stargardt diseaseOpen Targets
0.05Suggestive
posterior cortical atrophyOpen Targets
0.05Suggestive
reticular dystrophy of the retinal pigment epitheliumOpen Targets
0.05Suggestive
musculoskeletal system diseaseOpen Targets
0.05Suggestive
spondylolisthesisOpen Targets
0.05Suggestive
Familial drusenOpen Targets
0.04Suggestive
X-linked retinoschisisOpen Targets
0.04Suggestive
age related macular degeneration 2Open Targets
0.04Suggestive
age related macular degeneration 4Open Targets
0.04Suggestive
age related macular degeneration 7Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ORMDL2Protein interaction100%ZDHHC9Protein interaction100%GOLGA7Protein interaction100%ORMDL1Protein interaction100%ORMDL3Protein interaction100%SPTLC3Protein interaction92%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
7%
Heart
6%
Liver
6%
Ovary
2%
Lung
1%
Gene Interaction Network
Click a node to explore
SPTSSBORMDL2ZDHHC9GOLGA7ORMDL1ORMDL3SPTLC3
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q6ZWB5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.56LoF Tolerant
pLIⓘ
0.05Tolerant
Observed/Expected LoF0.71 [0.35–1.56]
RankingsWhere SPTSSB stands among ~20K protein-coding genes
  • #18,219of 20,598
    Most Researched6
  • #15,476of 17,882
    Most Constrained (LOEUF)1.56
Genes detectedSPTSSB
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
Single-Cell RNA-Seq Analysis of Cells from Degenerating and Non-Degenerating Intervertebral Discs from the Same Individual Reveals New Biomarkers for Intervertebral Disc Degeneration.
PMID: 35409356
Int J Mol Sci · 2022
1.00
2
The Urinary Bladder is Rich in Glycosphingolipids Composed of Phytoceramides.
PMID: 36441023
J Lipid Res · 2022
0.89
3
Mapping the causal chain from genetic risk variants to lipid dysmetabolism in Parkinson's disease.
PMID: 41627849
Brain · 2026
0.78
4
Integrated analysis of the lncRNA-associated ceRNA network in Alzheimer's disease.
PMID: 37187245
Gene · 2023
0.67
5
Decreased SPTLC1 expression predicts worse outcomes in ccRCC patients.
PMID: 31512789
J Cell Biochem · 2020
0.56