HACD2
3-Hydroxyacyl-CoA Dehydratase 2
Gene Information Card
| Symbol | HACD2 |
|---|---|
| Full Name | 3-Hydroxyacyl-CoA Dehydratase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q21.3 |
| NCBI Gene ID | 253012 ncbi.nlm.nih.gov/gene/253012 |
| Ensembl ID | ENSG00000163644 |
| UniProt ID | Q6Y1H2 |
| OMIM ID | 617200 |
| HGNC ID | 26012 |
| Aliases | PTPLB, HACD2 |
Description
HACD2 (3-Hydroxyacyl-CoA Dehydratase 2) encodes a member of the very long chain fatty acid (VLCFA) elongase complex. The protein catalyzes the third step of the elongation cycle, the dehydration of 3-hydroxyacyl-CoA to trans-2,3-enoyl-CoA. It is localized to the endoplasmic reticulum and is essential for the biosynthesis of VLCFAs, which are critical components of sphingolipids and membrane lipids.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Spastic Paraplegia | Mutations in HACD2 disrupt VLCFA elongation, leading to axonal degeneration | PMID: 31006510 |
| Leukodystrophy | Impaired myelin formation due to defective VLCFA synthesis | PMID: 31006510 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Medium |
| Liver | 8.5 | Medium |
| Kidney | 7.1 | Medium |
| Testis | 6.8 | Low |
| Heart | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.3 | High expression |
| HepG2 | 9.8 | Medium expression |
| SH-SY5Y | 11.5 | High expression |
| HeLa | 7.2 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.527G>A (p.Arg176His) | Missense | Rare | Loss of enzymatic activity |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish dehydratase activity, impairing VLCFA elongation.
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)
| • oxidoreductase activity (GO:0016628) | • endoplasmic reticulum (GO:0005783) |
| • fatty acid elongation (GO:0006636) | • 3-hydroxyacyl-CoA dehydratase activity (GO:0017086) |
Pathways
• Very long chain fatty acid biosynthesis (R-HSA-75876)
• Sphingolipid metabolism (R-HSA-428157)
Protein Summary
HACD2 is a 262-amino acid transmembrane protein localized to the endoplasmic reticulum. It functions as a 3-hydroxyacyl-CoA dehydratase in the VLCFA elongation cycle, converting 3-hydroxyacyl-CoA to trans-2,3-enoyl-CoA. The protein contains a conserved active site and is essential for the synthesis of VLCFAs, which are crucial for myelin maintenance and neuronal function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HACD2 Knockout HEK293 Cell Line | EDJ-KQ4909 | Human | 201562 | Details Get a Quote |
| HACD2 Knockout HeLa Cell Line | EDJ-KQ26522 | Human | 201562 | Details Get a Quote |
| HACD2 Knockout A-549 Cell Line | EDJ-KQ27739 | Human | 201562 | Details Get a Quote |
| HACD2 Knockout HCT 116 Cell Line | EDJ-KQ27740 | Human | 201562 | Details Get a Quote |
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