SPTSSB
Serine Palmitoyltransferase Small Subunit B
Gene Information Card
| Symbol | SPTSSB |
|---|---|
| Full Name | Serine Palmitoyltransferase Small Subunit B |
| Gene Type | Protein-coding |
| Chromosomal Location | 3q25.31 |
| NCBI Gene ID | 165679 ncbi.nlm.nih.gov/gene/165679 |
| Ensembl ID | ENSG00000196569 |
| UniProt ID | Q8N5M1 |
| OMIM ID | 613540 |
| HGNC ID | 26552 |
| Aliases | hsSPT2, SPTLC3, SPT2 |
Description
SPTSSB encodes a small subunit of serine palmitoyltransferase (SPT), the key enzyme in sphingolipid biosynthesis. It modulates SPT substrate specificity and activity, influencing the production of various sphingoid bases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Sensory and Autonomic Neuropathy (HSAN) | Loss-of-function mutations in SPTSSB impair sphingolipid synthesis, leading to neuronal dysfunction. | ClinVar, OMIM |
| Charcot-Marie-Tooth Disease | Disrupted sphingolipid metabolism due to SPTSSB variants may contribute to peripheral neuropathy. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| SH-SY5Y | 9.8 | Moderate expression |
| HepG2 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.332G>A (p.Arg111His) | Missense | <0.01% | Reduced SPT activity |
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Impaired sphingolipid synthesis |
Mutation functional classification
Loss of Function (LOF)
Mutations reducing SPT activity lead to decreased sphingolipid levels, associated with neuropathy.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • serine C-palmitoyltransferase activity | • sphingolipid biosynthetic process |
| • endoplasmic reticulum membrane |
Pathways
• Sphingolipid metabolism
• De novo sphingolipid biosynthesis
Protein Summary
SPTSSB is a regulatory subunit of serine palmitoyltransferase, essential for sphingolipid synthesis. It influences enzyme substrate specificity and is critical for maintaining cellular sphingolipid homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPTSSB Knockout HEK293 Cell Line | EDJ-KQ15506 | Human | 165679 | Details Get a Quote |
| SPTSSB Knockout HCT 116 Cell Line | EDJ-KQ45073 | Human | 165679 | Details Get a Quote |
| SPTSSB Knockout HeLa Cell Line | EDJ-KQ58891 | Human | 165679 | Details Get a Quote |
| SPTSSB Knockout A-549 Cell Line | EDJ-KQ67380 | Human | 165679 | Details Get a Quote |
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