ALDH3A2 aldehyde dehydrogenase 3 family, member A2 [Homo sapiens] - Gene

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Summary

Official Symbol: ALDH3A2provided by HGNC
Official Full Name: aldehyde dehydrogenase 3 family, member A2provided by HGNC
Primary source: HGNC:403
See related: Ensembl:ENSG00000072210; HPRD:07188; MIM:609523; Vega:OTTHUMG00000059471
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: SLS; FALDH; ALDH10; FLJ20851; DKFZp686E23276
Summary: Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 17p11.2

Sequence :: Chromosome: 17; NC_000017.10 (19552064..19580908)

See ALDH3A2 in Epigenomics, MapViewer

Chromosome 17 - NC_000017.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

We studied three Turkish Sjogren-Larsson syndrome patients One patient was homozygous for a novel ALDH3A2 mutation in exon 5. The mutation involves the codon 228 (CGC) with the transversion G->A modifying the codon in CAC.
Title: Sjögren-Larsson syndrome: report of monozygote twins and a case with a novel mutation.
We describe 2 Sjogren-Larsson syndrome patients whose disease is caused by large contiguous gene deletions of the ALDH3A2 locus on 17p11.2.
Title: Large contiguous gene deletions in Sjögren-Larsson syndrome.
SLS is caused by mutation in the ALDH3A2 gene, which encodes for FALDH, an enzyme that catalyzes the oxidation of medium- and long-chain aliphtic aldehydes.
Title: Sjögren-Larsson syndrome due to a novel mutation in the FALDH gene.
The present results suggest that ALDH3A2 is a gene responsible for Sjogren-Larsson syndrome in Asian populations.
Title: An Indian family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation.
Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
FALDH deficiency in keratinocytes from patients with Sjogren-Larsson syndrome causes accumulation and diversion of fatty alcohol into alternative biosynthetic pathways.
Title: Abnormal fatty alcohol metabolism in cultured keratinocytes from patients with Sjögren-Larsson syndrome.
A structural model of FALDH has been constructed, and catalytically important residues have been proposed to be involved in alcohol and aldehyde oxidation: Gln-120, Glu-207, Cys-241, Phe-333, Tyr-410 and His-411.
Title: Characterisation of recombinant human fatty aldehyde dehydrogenase: implications for Sjögren-Larsson syndrome.
These results add to understanding of the genetic basis of Sjogren-Larsson syndrome.
Title: Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome.
Minireview summarizes recent advances in the molecular genetics of fatty aldehyde dehydrogenase (FALDH) deficiency and the biochemical pathogenesis of Sjogren-Larsson syndrome.
Title: Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.

Submit: New GeneRIF Correction See all (16)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Products	Interactant	Other Gene	Source	Pubs	Description
BioGRID:106726	BioGRID:117421	COBRA1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106726	BioGRID:110455	MME	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106726	BioGRID:215010	Mad2l2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106726	BioGRID:203518	Stag2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106726	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106726	BioGRID:131884	USP50	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
aldehyde dehydrogenase (NAD) activity	IDA Inferred from Direct Assay more info	PubMed
aldehyde dehydrogenase [NAD(P)+] activity	IEA Inferred from Electronic Annotation more info
oxidoreductase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cellular aldehyde metabolic process	IDA Inferred from Direct Assay more info	PubMed
oxidation-reduction process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
integral to membrane	IEA Inferred from Electronic Annotation more info
membrane	IEA Inferred from Electronic Annotation more info
microsome	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: fatty aldehyde dehydrogenase

Names: fatty aldehyde dehydrogenase; aldehyde dehydrogenase 10; microsomal aldehyde dehydrogenase; aldehyde dehydrogenase family 3 member A2

NP_000373.1

EC 1.2.1.3

NP_001026976.1

EC 1.2.1.3

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NCBI Reference Sequences (RefSeq)

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

NG_007095.2 RefSeqGene

Range

5001..33845

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000382.2 → NP_000373.1 fatty aldehyde dehydrogenase isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate segment in the 3' coding region compared to variant 1. Isoform 2 has a shorter and different C-terminus, compared to isoform 1.

Source sequence(s)

AK123877, BC002430, L47162, U46689

Consensus CDS

CCDS11210.1

UniProtKB/Swiss-Prot

P51648

UniProtKB/TrEMBL

Q6I9T3

Related

ENSP00000176643, OTTHUMP00000065799, ENST00000176643, OTTHUMT00000132268

Conserved Domains (2) summary

cd07132
Location:5 – 444
Blast Score: 2055

ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins

PTZ00381
Location:5 – 447
Blast Score: 1546

PTZ00381; aldehyde dehydrogenase family protein; Provisional
NM_001031806.1 → NP_001026976.1 fatty aldehyde dehydrogenase isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC005722, AK123877, BC002430, BG699030

Consensus CDS

CCDS32589.1

UniProtKB/Swiss-Prot

P51648

Related

ENSP00000345774, OTTHUMP00000065800, ENST00000339618, OTTHUMT00000132269

Conserved Domains (2) summary

cd07132
Location:5 – 444
Blast Score: 2059

ALDH_F3AB; Aldehyde dehydrogenase family 3 members A1, A2, and B1 and related proteins

PTZ00381
Location:5 – 447
Blast Score: 1549

PTZ00381; aldehyde dehydrogenase family protein; Provisional

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000017.10 Reference GRCh37.p5 Primary Assembly

Range

19552064..19580908

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000149.1 Alternate HuRef

Range

18931182..18960005

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC005722.1 (157535..179591)	None
genomic	AC115989.6	None
genomic	CH471212.1	EAW50898.1
		EAW50899.1
		EAW50900.1
genomic	U75286.1	AAC50966.1
genomic	U75295.1	AAC50965.1
genomic	U75296.1	AAC50966.1
mRNA	AB208894.1	BAD92131.1
mRNA	AK000858.1	None
mRNA	AK025677.1	None
mRNA	AK123877.1	None
mRNA	AK292381.1	BAF85070.1
mRNA	AK315096.1	BAG37560.1
mRNA	BC002430.2	AAH02430.1
mRNA	BG699030.1	None
mRNA	CR457422.1	CAG33703.1
mRNA	CR749559.1	CAH18356.1
mRNA	L47162.1	AAB01003.1
mRNA	U46689.1	AAC51121.1
other-genetic	DQ895880.2	ABM86806.1
other-genetic	EU176377.1	ABW03828.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P51648.1	GenPept	UniProtKB/Swiss-Prot:P51648
Q59H65	GenPept	UniProtKB/TrEMBL:Q59H65
Q68D64	GenPept	UniProtKB/TrEMBL:Q68D64
Q6I9T3	GenPept	UniProtKB/TrEMBL:Q6I9T3