SCP2 Gene (Sterol Carrier Protein 2)
SCP2: A key player in lipid metabolism, peroxisomal function, and bile acid synthesis.
Gene Information Card
| Symbol | SCP2 |
|---|---|
| Full Name | Sterol Carrier Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p32.3 |
| NCBI Gene ID | 6342 ncbi.nlm.nih.gov/gene/6342 |
| Ensembl ID | ENSG00000116194 |
| UniProt ID | P22307 |
| OMIM ID | 184755 |
| HGNC ID | 10606 |
| Aliases | SCP-2, SCPX, NLTP, NSL-TP |
Description
The SCP2 gene encodes sterol carrier protein 2, a peroxisomal protein involved in intracellular lipid transport, bile acid synthesis, and cholesterol metabolism. It is essential for the proper functioning of peroxisomes and is associated with peroxisomal disorders when mutated.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| SCP2 deficiency (Peroxisomal leukodystrophy) | Loss of SCP2 function impairs peroxisomal beta-oxidation of branched-chain fatty acids and bile acid intermediates, leading to accumulation of phytanic acid and abnormal bile acids. | OMIM #184755; ClinVar; NCBI Gene |
| Zellweger spectrum disorders | Mutations in SCP2 can contribute to peroxisome biogenesis defects, though primary association is with other PEX genes. | OMIM; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Small intestine | 6.1 | Medium |
| Brain | 4.2 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK293 | 7.8 | Embryonic kidney cells |
| SH-SY5Y | 4.5 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.292C>T (p.Arg98*) | Nonsense | Rare | Premature stop, loss of function |
| c.464_465del (p.Leu155fs) | Frameshift | Rare | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported SCP2 mutations are loss-of-function, leading to SCP2 deficiency and peroxisomal dysfunction.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005319 (lipid transporter activity) | • GO:0006629 (lipid metabolic process) |
| • GO:0005777 (peroxisome) | • GO:0008203 (cholesterol metabolic process) |
| • GO:0015485 (cholesterol binding) |
Pathways
• Peroxisomal lipid metabolism
• Bile acid biosynthesis
• Cholesterol metabolism
Protein Summary
Sterol carrier protein 2 (SCP2) is a 143-amino acid protein localized to peroxisomes. It functions as a lipid transfer protein, facilitating the transport of sterols and phospholipids. SCP2 is critical for the beta-oxidation of branched-chain fatty acids and the synthesis of bile acids. Deficiency leads to accumulation of phytanic acid and abnormal bile acid intermediates, causing neurological and hepatic symptoms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SCP2 Knockout HEK293 Cell Line | EDJ-KQ5722 | Human | 6342 | Details Get a Quote |
| SCP2D1 Knockout HEK293 Cell Line | EDJ-KQ9821 | Human | 140856 | Details Get a Quote |
| SCP2 Knockout A-549 Cell Line | EDJ-KQ29111 | Human | 6342 | Details Get a Quote |
| SCP2 Knockout HCT 116 Cell Line | EDJ-KQ29112 | Human | 6342 | Details Get a Quote |
| SCP2 Knockout HeLa Cell Line | EDJ-KQ29113 | Human | 6342 | Details Get a Quote |
| SCP2D1 Knockout HeLa Cell Line | EDJ-KQ58464 | Human | 140856 | Details Get a Quote |
| SCP2D1 Knockout A-549 Cell Line | EDJ-KQ66951 | Human | 140856 | Details Get a Quote |
| SCP2D1 Knockout HCT 116 Cell Line | EDJ-KQ75353 | Human | 140856 | Details Get a Quote |
Displaying Records 1 To 8 Of 8 Records
