HACD1
3-hydroxyacyl-CoA dehydratase 1
Gene Information Card
| Symbol | HACD1 |
|---|---|
| Full Name | 3-hydroxyacyl-CoA dehydratase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 10p12.33 |
| NCBI Gene ID | 9200 ncbi.nlm.nih.gov/gene/9200 |
| Ensembl ID | ENSG00000119915 |
| UniProt ID | Q8WXK6 |
| OMIM ID | 614482 |
| HGNC ID | 9639 |
| Aliases | PTPLA, CAP, HACD1 |
Description
HACD1 encodes 3-hydroxyacyl-CoA dehydratase 1, an enzyme involved in the elongation of very long-chain fatty acids. It catalyzes the third step of the fatty acid elongation cycle, converting 3-hydroxyacyl-CoA to trans-2,3-enoyl-CoA. The gene is highly expressed in skeletal muscle and is essential for normal muscle development and function. Mutations in HACD1 are associated with congenital myopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital myopathy with hypotonia and muscle weakness | Loss-of-function mutations impair very long-chain fatty acid synthesis, disrupting muscle cell membrane integrity and function | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 22.5 | High |
| Heart | 10.2 | Medium |
| Liver | 3.1 | Low |
| Brain | 1.8 | Low |
| Kidney | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Skeletal muscle myoblasts | 18.0 | High expression |
| Cardiomyocytes | 9.5 | Moderate expression |
| HepG2 | 2.8 | Low expression |
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.202C>T (p.Arg68*) | nonsense | rare | Premature stop, loss of function |
| c.464G>A (p.Arg155His) | missense | rare | Reduced enzymatic activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce or abolish enzymatic activity lead to congenital myopathy.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • 3-hydroxyacyl-CoA dehydratase activity | • fatty acid elongation |
| • very long-chain fatty acid biosynthetic process | • endoplasmic reticulum membrane |
Pathways
• Fatty acid elongation (KEGG: hsa00062)
• Sphingolipid metabolism
Protein Summary
HACD1 is a 3-hydroxyacyl-CoA dehydratase localized to the endoplasmic reticulum membrane. It catalyzes the dehydration of 3-hydroxyacyl-CoA to trans-2,3-enoyl-CoA during the elongation cycle of very long-chain fatty acids. The protein is critical for the synthesis of fatty acids longer than C18, which are essential components of membrane lipids and signaling molecules. HACD1 is highly expressed in skeletal muscle and heart, and its deficiency leads to impaired muscle function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HACD1 Knockout HEK293 Cell Line | EDJ-KQ6495 | Human | 9200 | Details Get a Quote |
| HACD1 Knockout A-549 Cell Line | EDJ-KQ30625 | Human | 9200 | Details Get a Quote |
| HACD1 Knockout HCT 116 Cell Line | EDJ-KQ30626 | Human | 9200 | Details Get a Quote |
| HACD1 Knockout HeLa Cell Line | EDJ-KQ30627 | Human | 9200 | Details Get a Quote |
