Official Symbol

ALDH7A1provided by HGNC

Official Full Name

aldehyde dehydrogenase 7 family, member A1provided by HGNC

Primary source

HGNC:877

See related

Ensembl:ENSG00000164904; HPRD:00124; MIM:107323

Gene type

protein coding

RefSeq status

REVIEWED

Organism

Homo sapiens

Lineage

Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo

Also known as

EPD; PDE; ATQ1; FLJ11738; FLJ92814; ALDH7A1

Summary

Antiquitin is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. Mutations in this gene cause pyridoxine-dependent epilepsy, which involves a combination of various seizure types and is responsive to immediate administration of pyridoxine hydrochloride. Four additional human antiquitin-like sequences, all of which are pseudogenes, have also been identified. [provided by RefSeq]

(minus strand) Go to reference sequence detailsTry our new Sequence Viewer

chromosome: 5; Location: 5q31See ALDH7A1 in MapViewer

Related Articles in PubMed

GeneRIFs: Gene References Into FunctionWhat's a GeneRIF?

	1.	The diagnosis of pyridoxine-dependent seizures was confirmed with biochemical and molecular testing revealing elevated alpha-AASA excretion and the presence of 2 different mutations in the antiquitin ( ALDH7A1) gene.
	2.	allelic and non-allelic heterogeneities of pyridoxine dependent seizures, and cerebrospinal fluid glutamate elevation does not directly correlate with the presence of ALDH7A1 mutations.
	3.	Children with pyridoxine-dependent seizures (PDS) have mutations in the ALDH7A1 gene, which encodes antiquitin; these mutations abolish the activity of antiquitin as a delta1-piperideine-6-carboxylate (P6C)-alpha-aminoadipic semialdehyde dehydrogenase.

Markers

Phenotypes

Pathways

Homology

GeneOntology Provided by GOA

Related pseudogene(s)

Preferred Names

aldehyde dehydrogenase 7 family, member A1

Names

aldehyde dehydrogenase 7 family, member A1

antiquitin 1

P6c dehydrogenase

alpha-AASA dehydrogenase

26g turgor protein homolog

alpha-aminoadipic semialdehyde dehydrogenase

delta1-piperideine-6-carboxylate dehydrogenease

NP_001173.1

EC 1.2.1.-

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

1. NG_008600.1 RefSeqGene

   Range

   5001..57165

   Download

   GenBank  FASTA Sequence Viewer (Graphics)

mRNA and Protein(s)

1. NM_001182.3→NP_001173.2 aldehyde dehydrogenase 7 family, member A1

   Source sequence(s)

   AC093535,AK021800,BC071712,CD678674,DC375277

   Consensus CDS

   CCDS4137.1

   Note

   The coding region has been updated to extend the N-terminus to one that is more supported by available transcript and homology data. A downstream translation start codon is selected for this CCDS based on better conservation, and for N-terminal consistency with homologous proteins. The use of an upstream start codon, which is present in only a select group of higher mammals, would increase the protein length by 27 aa. No experimental evidence exists to show which start codon is used.

   UniProtKB/Swiss-Prot

   P49419

   Conserved Domains (1) summary

   cl00545
   Location:61–521
   Blast Score:1204

   Aldedh; Aldehyde dehydrogenase family

RefSeqs of Annotated Genomes: Build 36.3

The following sections contain reference sequences that belong to a specific genome build. Explain

This section includes genomic Reference Sequences (RefSeqs) from all assemblies on which this gene is annotated, such as RefSeqs for chromosomes and scaffolds (contigs) from both reference and alternate assemblies. Model RNAs and proteins are also reported here.

Reference assembly

Genomic

1. NC_000005.8 Reference assembly

   Range

   125958839..125908344, complement

   Download

   GenBank  FASTA Sequence Viewer (Graphics)

2. NT_034772.5

   Range

   28345953..28295458, complement

   Download

   GenBank  FASTA Sequence Viewer (Graphics)

Alternate assembly (based on Celera assembly)

Genomic

1. AC_000048.1 Alternate assembly (based on Celera assembly)

   Range

   121903379..121838703, complement

   Download

   GenBank  FASTA Sequence Viewer (Graphics)

2. NW_922751.1

   Range

   26524550..26459874, complement

   Download

   GenBank  FASTA Sequence Viewer (Graphics)

Alternate assembly (based on HuRef)

Genomic

1. AC_000137.1 Alternate assembly (based on HuRef)

   Range

   121071149..121122184

   Download

   GenBank  FASTA Sequence Viewer (Graphics)

2. NW_001838952.2

   Range

   12854525..12905560

   Download

   GenBank  FASTA Sequence Viewer (Graphics)

• MIM 107323
• GeneTests for MIM: 107323
• GeneTests for MIM: 266100
• HPRD 00124
• Aldehyde Dehydrogenase Gene Superfamily Resource ALDH7A1
• BIOMDB: Database of Mutations Causing Tetrahyrdobiopterin Deficiencies BIOMDB: Database of Mutations Causing Tetrahyrdobiopterin Deficiencies
• UCSC UCSC
• UniGene Hs.483239