Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 9200
MIM: 610467
HGNC: 9639
Ensembl: ENSG00000165996
Variants:
dbSNP: 9200
ClinVar: 9200
TCGA: ENSG00000165996
COSMIC: HACD1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000165996 | ENST00000326961 | A6NP58 |
| ENSG00000165996 | ENST00000361271 | B0YJ81 |
| ENSG00000165996 | ENST00000466335 | J3KS69 |
| ENSG00000165996 | ENST00000498812 | J3KT94 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38422897 | 2024 | The 3-hydroxyacyl-CoA dehydratase 1/2 form complex with trans-2-enoyl-CoA reductase involved in substrates transfer in very long chain fatty acid elongation. | 1 |
| 38422897 | 2024 | The 3-hydroxyacyl-CoA dehydratase 1/2 form complex with trans-2-enoyl-CoA reductase involved in substrates transfer in very long chain fatty acid elongation. | 1 |
| 33354762 | 2021 | Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy. | 4 |
| 33354762 | 2021 | Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy. | 4 |
| 27939133 | 2017 | Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems. | 6 |
| 28784662 | 2017 | The 3-hydroxyacyl-CoA dehydratases HACD1 and HACD2 exhibit functional redundancy and are active in a wide range of fatty acid elongation pathways. | 20 |
| 27939133 | 2017 | Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems. | 6 |
| 28784662 | 2017 | The 3-hydroxyacyl-CoA dehydratases HACD1 and HACD2 exhibit functional redundancy and are active in a wide range of fatty acid elongation pathways. | 20 |
| 23933735 | 2013 | Congenital myopathy is caused by mutation of HACD1. | 21 |
| 23933735 | 2013 | Congenital myopathy is caused by mutation of HACD1. | 21 |
| 22067203 | 2012 | Isolation of protein-tyrosine phosphatase-like member-a variant from cementum. | 4 |
| 23071563 | 2012 | Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide. | 12 |
| 22067203 | 2012 | Isolation of protein-tyrosine phosphatase-like member-a variant from cementum. | 4 |
| 23071563 | 2012 | Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide. | 12 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
Citation
Dessen P
HACD1 (3-hydroxyacyl-CoA dehydratase 1)
Atlas Genet Cytogenet Oncol Haematol. 2007-04-01
Online version: http://atlasgeneticsoncology.org/gene/46754/deep-insight-explorer/meetings/
