HACD3
3-hydroxyacyl-CoA dehydratase 3
Gene Information Card
| Symbol | HACD3 |
|---|---|
| Full Name | 3-hydroxyacyl-CoA dehydratase 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q23 |
| NCBI Gene ID | 64318 ncbi.nlm.nih.gov/gene/64318 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q9P035 |
| OMIM ID | 617210 |
| HGNC ID | 28418 |
| Aliases | BIND1, PTPLAD1, 3-hydroxyacyl-CoA dehydratase 3 |
Description
HACD3 encodes 3-hydroxyacyl-CoA dehydratase 3, an enzyme involved in the elongation cycle of very long chain fatty acids (VLCFAs). It catalyzes the dehydration of 3-hydroxyacyl-CoA to trans-2-enoyl-CoA, a critical step in fatty acid elongation. The protein is localized to the endoplasmic reticulum and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary spastic paraplegia | Mutations in HACD3 disrupt VLCFA elongation, leading to axonal degeneration | PMID: 30929742 |
| Leukodystrophy | Impaired myelin maintenance due to defective VLCFA metabolism | PMID: 30929742 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Kidney | 6.7 | Low |
| Heart | 5.9 | Low |
| Testis | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HeLa | 10.2 | Medium expression |
| HepG2 | 8.5 | Medium expression |
| SH-SY5Y | 7.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.637C>T (p.Arg213Trp) | Missense | <0.01% | Loss of enzyme activity |
| c.1048G>A (p.Gly350Arg) | Missense | <0.01% | Reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg213Trp) impair catalytic activity, reducing 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)
| • 3-hydroxyacyl-CoA dehydratase activity | • very long-chain fatty acid biosynthetic process |
| • endoplasmic reticulum membrane |
Pathways
• Fatty acid elongation
• Sphingolipid metabolism
Protein Summary
HACD3 is a 3-hydroxyacyl-CoA dehydratase that catalyzes the third step of the fatty acid elongation cycle. It is essential for the synthesis of very long chain fatty acids (C22-C26), which are critical components of myelin and cellular membranes. The protein contains a conserved HACD domain and is anchored to the endoplasmic reticulum membrane.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HACD3 Knockout HEK293 Cell Line | EDJ-KQ11112 | Human | 51495 | Details Get a Quote |
| HACD3 Knockout A-549 Cell Line | EDJ-KQ39084 | Human | 51495 | Details Get a Quote |
| HACD3 Knockout HCT 116 Cell Line | EDJ-KQ39085 | Human | 51495 | Details Get a Quote |
| HACD3 Knockout HeLa Cell Line | EDJ-KQ37774 | Human | 51495 | Details Get a Quote |
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