3-hydroxyacyl-CoA dehydratase 1

Summary
Gene Symbol
  • HACD1
Aliases
  • CAP
  • Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1
  • cementum attachment protein
Organism
Homo sapiens (human)
External Links
NCBI Gene
9200
HGNC
9639
KEGG Gene ID
hsa:9200
PubChem
9200
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Developmental protein
  • Disease variant
  • Endoplasmic reticulum
  • Fatty acid biosynthesis
  • Glycoprotein
  • Lyase
  • Phosphoprotein
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
B0YJ81
  • 3-hydroxyacyl-CoA dehydratase 1
  • Cementum-attachment protein
  • Protein-tyrosine phosphatase-like member A
Gene Ontology (GO)
GO Hierarchy
KEGG BRITE Database
Orthology
K10703
Name
very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase [EC:4.2.1.134]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 180 in total
DO ID Disease Name Source
DOID:0040084 Streptococcus pneumonia
DOID:0050431 arrhythmogenic right ventricular cardiomyopathy
DOID:0050588 muscular dystrophy-dystroglycanopathy type B1
DOID:0050746 mantle cell lymphoma
DOID:0060180 colitis
DOID:0060189 ileitis
DOID:0060190 ileocolitis
DOID:0060249 scoliosis
DOID:0060260 ptosis
DOID:0060261 congenital ptosis
The Human Phenotype Ontology
Displaying entries 31 - 40 of 70 in total
HPO ID HPO Term
HP:0002205 Recurrent respiratory infections
HP:0002315 Headache
HP:0002360 Sleep abnormality
HP:0002421 Poor head control
HP:0002515 Waddling gait
HP:0002643 Neonatal respiratory distress
HP:0002650 Scoliosis
HP:0002747 Respiratory insufficiency due to muscle weakness
HP:0002751 Kyphoscoliosis
HP:0002878 Respiratory failure
Displaying all 2 entries
Disease ID Disease Name
OMIM:619967
  • congenital myopathy 11
ORPHA:2020
  • congenital fiber-type disproportion myopathy

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024