ALDH7A1 - Alpha-aminoadipic semialdehyde dehydrogenase - human protein (Medical)
 
Home Recent activites arrow-down favorite My favorites arrow-down favorite My labels arrow-down Downloads
Back to ...  
Publication View
Protein
Gene
References

 
ALDH7A1 »  Alpha-aminoadipic semialdehyde dehydrogenase   [ EC 1.2.1.31 ]  (Alpha-AASA dehydrogenase)
 
Protein also known as:  Delta1-piperideine-6-carboxylate dehydrogenase (P6c dehydrogenase).
Gene name:  ALDH7A1
Family name: Aldehyde dehydrogenase
Entry whose protein(s) existence is based on evidence at protein level
extend overview
1 41 4
GENE REF ISO

Displayed isoform: Iso 1     

 
 

Medical

 show evidences
Disease 
Pyridoxine-dependent epilepsy (PDE) [MIM:266100]: Characterized by a combination of various seizure types. It usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following disease:
Pyridoxine-dependent epilepsy  3006  
Pharmaceutical 
According to DrugBank, this protein binds/interacts with the following drugs:
NADH  DB00157  
Pyridoxine  DB00165  
 

Keywords

Disease 
Disease mutation  definition   [KW-0225]
Epilepsy  definition   [KW-0887]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 501
MIM: 266100
PharmGKB: PA24704
Polymorphism databases
DMDM: 294862544
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.