SCCPDH Gene - Saccharopine Dehydrogenase
Comprehensive genomic and functional analysis of SCCPDH
Gene Information Card
| Symbol | SCCPDH |
|---|---|
| Full Name | Saccharopine Dehydrogenase |
| Gene Type | Protein coding |
| Chromosomal Location | 1q24.1 |
| NCBI Gene ID | 51097 ncbi.nlm.nih.gov/gene/51097 |
| Ensembl ID | ENSG00000143621 |
| UniProt ID | Q8NBX0 |
| OMIM ID | 617556 |
| HGNC ID | 24271 |
| Aliases | SCCPDH, CGI-49, HSPC210 |
Description
SCCPDH encodes saccharopine dehydrogenase, an enzyme involved in lysine degradation. It catalyzes the conversion of saccharopine to lysine and alpha-ketoglutarate in the mitochondria. Mutations in this gene are associated with metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Saccharopinuria | Deficiency in saccharopine dehydrogenase leads to accumulation of saccharopine | OMIM #268700 |
| Lysine intolerance | Impaired lysine degradation due to SCCPDH dysfunction | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Brain | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Liver cancer cell line |
| HEK293 | 6.7 | Embryonic kidney cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T | Missense | 0.001 | p.Arg34Trp |
| c.250G>A | Nonsense | 0.0005 | p.Trp84* |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations reduce enzyme activity
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • saccharopine dehydrogenase activity | • lysine catabolic process |
| • mitochondrion |
Pathways
• Lysine degradation (KEGG: hsa00310)
Protein Summary
Saccharopine dehydrogenase is a mitochondrial enzyme that catalyzes the reversible conversion of saccharopine to lysine and alpha-ketoglutarate. It is essential for lysine catabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SCCPDH Knockout HEK293 Cell Line | EDJ-KQ10913 | Human | 51097 | Details Get a Quote |
| SCCPDH Knockout HeLa Cell Line | EDJ-KQ37354 | Human | 51097 | Details Get a Quote |
| SCCPDH Knockout A-549 Cell Line | EDJ-KQ38654 | Human | 51097 | Details Get a Quote |
| SCCPDH Knockout HCT 116 Cell Line | EDJ-KQ73163 | Human | 51097 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
