aldehyde dehydrogenase 7 family member A1

Summary
Gene Symbol
  • ALDH7A1
Aliases
  • 26g turgor protein homolog
  • EPD
  • P6c dehydrogenase
  • PDE
  • alpha-AASA dehydrogenase
  • alpha-aminoadipic semialdehyde dehydrogenase
  • antiquitin 1
  • delta1-piperideine-6-carboxylate dehydrogenease
Organism
Homo sapiens (human)
External Links
NCBI Gene
501
HGNC
877
KEGG Gene ID
hsa:501
PubChem
501
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Cytoplasm
  • Disease variant
  • Epilepsy
  • Mitochondrion
  • NAD
  • Nucleus
  • Oxidoreductase
  • Reference proteome
  • Transit peptide
Proteins
Displaying 1 entry
UniProt Protein Name
P49419
  • Aldehyde dehydrogenase family 7 member A1
  • Antiquitin-1
  • Betaine aldehyde dehydrogenase
  • Delta1-piperideine-6-carboxylate dehydrogenase
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000164904

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K14085
Name
aldehyde dehydrogenase family 7 member A1 [EC:1.2.1.31 1.2.1.8 1.2.1.3]
References
Disease
Disease Ontology
Displaying entries 101 - 110 of 240 in total
DO ID Disease Name Source
DOID:0110302 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C
DOID:0110303 autosomal dominant limb-girdle muscular dystrophy type 1H
DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2
DOID:0110305 autosomal dominant limb-girdle muscular dystrophy type 1
DOID:0110306 autosomal dominant limb-girdle muscular dystrophy type 3
DOID:0110425 dilated cardiomyopathy 1A
DOID:0110826 Usher syndrome type 1
DOID:10127 cerebral artery occlusion
DOID:10283 prostate cancer
DOID:10286 prostate carcinoma
The Human Phenotype Ontology
Displaying entry 41 - 41 of 41 in total
HPO ID HPO Term
HP:0012768 Neonatal asphyxia
Displaying all 2 entries
Disease ID Disease Name
OMIM:266100
  • pyridoxine-dependent epilepsy caused by ALDH7A1 mutant
ORPHA:3006
  • pyridoxine-dependent epilepsy
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP000347
Gene Name
aldehyde dehydrogenase 7 family, member A1

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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