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 41 - 50 of 240 in total
DO ID Disease Name Source
DOID:0110237 cataract 42
DOID:0110238 cataract 18
DOID:0110239 cataract 12 multiple types
DOID:0110240 cataract 20 multiple types
DOID:0110241 cataract 41
DOID:0110242 cataract 13 with adult i phenotype
DOID:0110243 cataract 46 juvenile-onset
DOID:0110245 cataract 38
DOID:0110246 cataract 26 multiple types
DOID:0110248 cataract 30
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