ALDH8A1

Last updated
ALDH8A1
Identifiers
Aliases ALDH8A1 , aldehyde dehydrogenase 8 family, member A1, ALDH12, DJ352A20.2, aldehyde dehydrogenase 8 family member A1
External IDs OMIM: 606467 MGI: 2653900 HomoloGene: 23369 GeneCards: ALDH8A1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001193480
NM_022568
NM_170771

NM_178713

RefSeq (protein)

NP_001180409
NP_072090
NP_739577

NP_848828

Location (UCSC) Chr 6: 134.92 – 134.95 Mb Chr 10: 21.25 – 21.27 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Aldehyde dehydrogenase 8 family, member A1 also known as ALDH8A1 is an enzyme that in humans is encoded by the ALDH8A1 gene. [5]

Contents

Function

This protein belongs to the aldehyde dehydrogenase family of enzymes. It was originally thought to play a role in a pathway of 9-cis-retinoic acid biosynthesis in vivo. However, bioinformatics and experimental work has shown that it is more likely the aldehyde dehydrogenase of the kynurenine pathway, oxidizing 2-aminomuconate semialdehyde to 2-aminomuconic acid. [6] Two transcript variants encoding distinct isoforms have been identified for this gene. [7]

Related Research Articles

<span class="mw-page-title-main">Long-chain-aldehyde dehydrogenase</span> Protein-coding gene in the species Homo sapiens

Fatty aldehyde dehydrogenase is an aldehyde dehydrogenase enzyme that in human is encoded in the ALDH3A2 gene on chromosome 17. Aldehyde dehydrogenase enzymes function to remove toxic aldehydes that are generated by the metabolism of alcohol and by lipid peroxidation.

<span class="mw-page-title-main">ALDH2</span> Enzyme

Aldehyde dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the ALDH2 gene located on chromosome 12. This protein belongs to the aldehyde dehydrogenase family of enzymes. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of aldehyde dehydrogenase, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations.

<span class="mw-page-title-main">AKR1C1</span> Protein-coding gene in the species Homo sapiens

Aldo-keto reductase family 1 member C1 also known as 20α-hydroxysteroid dehydrogenase, 3α-hydroxysteroid dehydrogenase, and dihydrodiol dehydrogenase 1/2 is an enzyme that in humans is encoded by the AKR1C1 gene.

<span class="mw-page-title-main">Aldehyde dehydrogenase 3 family, member A1</span> Protein-coding gene in the species Homo sapiens

Aldehyde dehydrogenase, dimeric NADP-preferring is an enzyme that in humans is encoded by the ALDH3A1 gene.

<span class="mw-page-title-main">Aldehyde dehydrogenase 5 family, member A1</span> Protein-coding gene in the species Homo sapiens

Succinate-semialdehyde dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the ALDH5A1 gene.

<span class="mw-page-title-main">ADH7</span>

Alcohol dehydrogenase class 4 mu/sigma chain is an enzyme that in humans is encoded by the ADH7 gene.

<span class="mw-page-title-main">Aldehyde dehydrogenase 4 family, member A1</span>

Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the ALDH4A1 gene.

<span class="mw-page-title-main">ALDH1B1</span> Protein-coding gene in the species Homo sapiens

Aldehyde dehydrogenase X, mitochondrial is an enzyme that in humans is encoded by the ALDH1B1 gene.

<span class="mw-page-title-main">ALDH1A2</span>

Aldehyde dehydrogenase 1 family, member A2, also known as ALDH1A2 or retinaldehyde dehydrogenase 2 (RALDH2), is an enzyme that in humans is encoded by the ALDH1A2 gene.

<span class="mw-page-title-main">Aldehyde dehydrogenase 9 family, member A1</span> Protein-coding gene in the species Homo sapiens

4-trimethylaminobutyraldehyde dehydrogenase is an enzyme that in humans is encoded by the ALDH9A1 gene.

<span class="mw-page-title-main">Aldehyde dehydrogenase 18 family, member A1</span> Protein-coding gene in the species Homo sapiens

Delta-1-pyrroline-5-carboxylate synthetase (P5CS) is an enzyme that in humans is encoded by the ALDH18A1 gene. This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. As reported by Bruno Reversade and colleagues, ALDH18A1 deficiency or dominant-negative mutations in P5CS in humans causes a progeroid disease known as De Barsy Syndrome.

<span class="mw-page-title-main">ALDH3B2</span> Protein-coding gene in the species Homo sapiens

Aldehyde dehydrogenase family 3 member B2 is an enzyme that in humans is encoded by the ALDH3B2 gene.

<span class="mw-page-title-main">Aldehyde dehydrogenase 6 family, member A1</span> Protein-coding gene in the species Homo sapiens

Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial (MMSDH) is an enzyme that in humans is encoded by the ALDH6A1 gene.

<span class="mw-page-title-main">CYP26C1</span>

CYP26C1 is a protein which in humans is encoded by the CYP26C1gene.

<span class="mw-page-title-main">OGDH</span> Enzyme involved in Krebs cycle

Alpha-ketoglutarate dehydrogenase also known as 2-oxoglutarate dehydrogenase E1 component, mitochondrial is an enzyme that in humans is encoded by the OGDH gene.

<span class="mw-page-title-main">ALDH16A1</span> Protein-coding gene in the species Homo sapiens

Aldehyde dehydrogenase 16 family, member A1 also known as ALDH16A1 is an aldehyde dehydrogenase gene.

<span class="mw-page-title-main">ALDH3B1</span> Protein-coding gene in the species Homo sapiens

Aldehyde dehydrogenase 3 family, member B1 also known as ALDH3B1 is an enzyme that in humans is encoded by the ALDH3B1 gene.

<span class="mw-page-title-main">ALDH1L2</span>

Aldehyde dehydrogenase 1 family, member L2 also known as ALDH1L2 is an enzyme that in humans is encoded by the ALDH1L2 gene. ALDH1L2 is the mitochondrial isoform of a similar enzyme, ALDH1L1, which converts 10-formyltetrahydrofolate to tetrahydrofolate and carbon dioxide.

<span class="mw-page-title-main">ALDH1A3</span>

Aldehyde dehydrogenase 1 family, member A3, also known as ALDH1A3 or retinaldehyde dehydrogenase 3 (RALDH3), is an enzyme that in humans is encoded by the ALDH1A3 gene,

<span class="mw-page-title-main">MTHFD2L</span> Protein-coding gene in the species Homo sapiens

NAD-dependent methylenetetrahydrofolate dehydrogenase 2-like protein (MTHFD2L), also known as bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, is an enzyme that in humans is encoded by the MTHFD2L gene on chromosome 4. This enzyme localizes to the inner mitochondrial membrane, where it performs the NADP+-dependent dehydrogenase/cyclohydrolase activity as part of the mitochondrial pathway to convert folate to formate. It is associated with fluctuations in cytokine secretion in response to viral infections and vaccines.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000118514 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000037542 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Lin M, Napoli JL (December 2000). "cDNA cloning and expression of a human aldehyde dehydrogenase (ALDH) active with 9-cis-retinal and identification of a rat ortholog, ALDH12". The Journal of Biological Chemistry. 275 (51): 40106–12. doi: 10.1074/jbc.M008027200 . PMID   11007799.
  6. Davis I, Yang Y, Wherritt D, Liu A (June 2018). "Reassignment of the human aldehyde dehydrogenase ALDH8A1 (ALDH12) to the kynurenine pathway in tryptophan catabolism". The Journal of Biological Chemistry. 293 (25): 9594–9603. doi: 10.1074/jbc.RA118.003320 . PMC   6016481 . PMID   29703752.
  7. "Entrez Gene: ALDH8A1".

This article incorporates text from the United States National Library of Medicine, which is in the public domain.