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Aliases for ALDH1A3 Gene

Aliases for ALDH1A3 Gene

  • Aldehyde Dehydrogenase 1 Family Member A3 2 3 5
  • Retinaldehyde Dehydrogenase 3 2 3 4
  • Aldehyde Dehydrogenase 6 3 4
  • RALDH3 3 4
  • ALDH6 3 4
  • Aldehyde Dehydrogenase 1 Family, Member A3 2
  • Aldehyde Dehydrogenase Family 1 Member A3 3
  • Acetaldehyde Dehydrogenase 6 3
  • EC 1.2.1.5 4
  • EC 1.2.1 56
  • ALDH1A6 3
  • RALDH-3 4
  • MCOP8 3

External Ids for ALDH1A3 Gene

Previous HGNC Symbols for ALDH1A3 Gene

  • ALDH6

Previous GeneCards Identifiers for ALDH1A3 Gene

  • GC15P098102
  • GC15P095259
  • GC15P099012
  • GC15P099156
  • GC15P099157
  • GC15P099237
  • GC15P101419
  • GC15P077542

Summaries for ALDH1A3 Gene

Entrez Gene Summary for ALDH1A3 Gene

  • This gene encodes an aldehyde dehydrogenase enzyme that uses retinal as a substrate. Mutations in this gene have been associated with microphthalmia, isolated 8, and expression changes have also been detected in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

GeneCards Summary for ALDH1A3 Gene

ALDH1A3 (Aldehyde Dehydrogenase 1 Family Member A3) is a Protein Coding gene. Diseases associated with ALDH1A3 include Microphthalmia, Isolated 8 and Microphthalmia. Among its related pathways are Phenylalanine metabolism and Vitamin A and Carotenoid Metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and aldehyde dehydrogenase (NAD) activity. An important paralog of this gene is ALDH1A2.

UniProtKB/Swiss-Prot for ALDH1A3 Gene

  • NAD-dependent aldehyde dehydrogenase that catalyzes the formation of retinoic acid (PubMed:27759097). Has high activity with all-trans retinal, and has much lower in vitro activity with acetaldehyde (PubMed:27759097). Required for the biosynthesis of normal levels of retinoic acid in the embryonic ocular and nasal regions; retinoic acid is required for normal embryonic development of the eye and the nasal region (By similarity).

Gene Wiki entry for ALDH1A3 Gene

Additional gene information for ALDH1A3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALDH1A3 Gene

Genomics for ALDH1A3 Gene

GeneHancer (GH) Regulatory Elements for ALDH1A3 Gene

Promoters and enhancers for ALDH1A3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15I100879 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 550.8 +1.9 1887 1.2 LEF1 USF1 MAX ZIC2 E2F1 FOXM1 GLIS2 POLR2A EZH2 SMARCE1 ALDH1A3 LRRK1 ENSG00000278456 ENSG00000272639
GH15I100877 Enhancer 0.5 ENCODE 550.8 +0.0 37 0.2 USF1 ZNF189 EZH2 ZBTB17 ALDH1A3 ENSG00000278456 ENSG00000272639
GH15I101006 Enhancer 1.4 Ensembl ENCODE dbSUPER 10.9 +130.3 130287 2.4 HDGF PKNOX1 ARID4B SIN3A ZNF2 IRF4 POLR2B ZNF766 ZNF207 ZNF143 LRRK1 CHSY1 ALDH1A3 PIR34573 LOC101927751
GH15I100848 Promoter/Enhancer 1.2 Ensembl ENCODE 12.1 -27.8 -27786 2 GTF2F1 CTCF SIN3A ZBTB7B GATA3 POLR2A SMC3 ZNF444 PRDM10 SMARCA5 ENSG00000232386 ENSG00000272808 ALDH1A3 ENSG00000259604 ENSG00000270127 LOC105369201
GH15I100957 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +81.3 81253 2.3 NR2F1 CEBPB USF2 SIN3A REST EBF1 SP1 POLR2A ATF3 ZBTB33 LRRK1 ALDH1A3 LOC101927751 PIR34573
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ALDH1A3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ALDH1A3 gene promoter:

Genomic Locations for ALDH1A3 Gene

Genomic Locations for ALDH1A3 Gene
chr15:100,877,714-100,916,626
(GRCh38/hg38)
Size:
38,913 bases
Orientation:
Plus strand
chr15:101,417,919-101,456,831
(GRCh37/hg19)

Genomic View for ALDH1A3 Gene

Genes around ALDH1A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALDH1A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALDH1A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALDH1A3 Gene

Proteins for ALDH1A3 Gene

  • Protein details for ALDH1A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P47895-AL1A3_HUMAN
    Recommended name:
    Aldehyde dehydrogenase family 1 member A3
    Protein Accession:
    P47895
    Secondary Accessions:
    • Q6NT64

    Protein attributes for ALDH1A3 Gene

    Size:
    512 amino acids
    Molecular mass:
    56108 Da
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for ALDH1A3 Gene

neXtProt entry for ALDH1A3 Gene

Selected DME Specific Peptides for ALDH1A3 Gene

P47895:
  • KILELIESGK
  • EGAKLECGG
  • LADLVERD
  • RHEPIGV
  • MRIAKEEIFGPV
  • VTLELGG
  • VLKPAEQTP
  • EAGFPPGV
  • PWNFPLLM
  • VFTKNLD
  • TKIFINNEW
  • KPAEQTPL
  • GNGRELGE
  • TLELGGK
  • ITPWNFP
  • FFNQGQCC
  • YTEVKTVT
  • GVVNIVPG
  • PFGGFKMSGNGRE

Post-translational modifications for ALDH1A3 Gene

No Post-translational modifications

Other Protein References for ALDH1A3 Gene

Domains & Families for ALDH1A3 Gene

Gene Families for ALDH1A3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ALDH1A3 Gene

Graphical View of Domain Structure for InterPro Entry

P47895

UniProtKB/Swiss-Prot:

AL1A3_HUMAN :
  • Belongs to the aldehyde dehydrogenase family.
Family:
  • Belongs to the aldehyde dehydrogenase family.
genes like me logo Genes that share domains with ALDH1A3: view

Function for ALDH1A3 Gene

Molecular function for ALDH1A3 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=9.3 uM for all-trans retinal {ECO:0000269 PubMed:27759097}; KM=4.8 uM for NAD {ECO:0000269 PubMed:27759097}; KM=2.4 mM for acetaldehyde {ECO:0000269 PubMed:27759097};
UniProtKB/Swiss-Prot CatalyticActivity:
An aldehyde + NAD(P)(+) + H(2)O = a carboxylate + NAD(P)H.
UniProtKB/Swiss-Prot Function:
NAD-dependent aldehyde dehydrogenase that catalyzes the formation of retinoic acid (PubMed:27759097). Has high activity with all-trans retinal, and has much lower in vitro activity with acetaldehyde (PubMed:27759097). Required for the biosynthesis of normal levels of retinoic acid in the embryonic ocular and nasal regions; retinoic acid is required for normal embryonic development of the eye and the nasal region (By similarity).

Enzyme Numbers (IUBMB) for ALDH1A3 Gene

Phenotypes From GWAS Catalog for ALDH1A3 Gene

Gene Ontology (GO) - Molecular Function for ALDH1A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001758 retinal dehydrogenase activity TAS --
GO:0004029 aldehyde dehydrogenase (NAD) activity IBA,IEA --
GO:0004030 aldehyde dehydrogenase [NAD(P)+] activity IEA,IDA 11585737
GO:0016491 oxidoreductase activity IEA --
GO:0042803 protein homodimerization activity IDA 11585737
genes like me logo Genes that share ontologies with ALDH1A3: view
genes like me logo Genes that share phenotypes with ALDH1A3: view

Human Phenotype Ontology for ALDH1A3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ALDH1A3 Gene

MGI Knock Outs for ALDH1A3:

Animal Model Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for ALDH1A3 Gene

Localization for ALDH1A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALDH1A3 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALDH1A3 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
cytosol 5
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleus (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ALDH1A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IEA,IDA 11585737
GO:0005829 cytosol IDA,TAS --
GO:0005886 plasma membrane IDA --
GO:0070062 extracellular exosome HDA,IDA 23533145
genes like me logo Genes that share ontologies with ALDH1A3: view

Pathways & Interactions for ALDH1A3 Gene

genes like me logo Genes that share pathways with ALDH1A3: view

Pathways by source for ALDH1A3 Gene

UniProtKB/Swiss-Prot P47895-AL1A3_HUMAN

  • Pathway: Cofactor metabolism; retinol metabolism.

Gene Ontology (GO) - Biological Process for ALDH1A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002072 optic cup morphogenesis involved in camera-type eye development IEA --
GO:0002138 retinoic acid biosynthetic process IDA,IEA 27759097
GO:0007626 locomotory behavior IEA --
GO:0008152 metabolic process IEA --
GO:0021768 nucleus accumbens development IEA --
genes like me logo Genes that share ontologies with ALDH1A3: view

No data available for SIGNOR curated interactions for ALDH1A3 Gene

Drugs & Compounds for ALDH1A3 Gene

(15) Drugs for ALDH1A3 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Vitamin A Approved, Vet_approved Nutra Target 529
Chloral hydrate Approved, Illicit, Investigational, Vet_approved Pharma 17
gamma-Aminobutyric acid Approved, Investigational Pharma 263
Phenylacetic acid Approved Pharma 12

(42) Additional Compounds for ALDH1A3 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(S)-Methylmalonic acid semialdehyde
  • (2S)-2-methyl-3-oxopropanoate
  • (2S)-2-methyl-3-oxopropanoic acid
  • (S)-Methylmalonate semialdehyde
99043-16-0
2-Propyn-1-al
3,4-Dihydroxymandelaldehyde
  • 3,4-Dihydroxyphenylglycolaldehyde
  • 3,4-Dihydroxyphenylglycolic aldehyde
  • a,3,4-Trihydroxy-Benzeneacetaldehyde
  • alpha,3,4-Trihydroxy-Benzeneacetaldehyde
13023-73-9
3,4-Dihydroxymandelic acid
  • 3,4 Dihydroxymandelate
  • 3,4 Dihydroxymandelic acid
  • 3,4-Dihydroxymandelate
  • 3,4-Dihydroxyphenylglycolate
  • 3,4-Dihydroxyphenylglycolic acid
775-01-9
3,4-Dihydroxyphenylacetaldehyde
  • 3,4-Dihydroxy-Benzeneacetaldehyde
  • Protocatechuatealdehyde
5707-55-1
genes like me logo Genes that share compounds with ALDH1A3: view

Transcripts for ALDH1A3 Gene

Unigene Clusters for ALDH1A3 Gene

Aldehyde dehydrogenase 1 family, member A3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALDH1A3 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP1:
SP2: - - -

Relevant External Links for ALDH1A3 Gene

GeneLoc Exon Structure for
ALDH1A3
ECgene alternative splicing isoforms for
ALDH1A3

Expression for ALDH1A3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ALDH1A3 Gene

mRNA differential expression in normal tissues according to GTEx for ALDH1A3 Gene

This gene is overexpressed in Minor Salivary Gland (x7.3), Prostate (x5.7), and Adipose - Visceral (Omentum) (x5.5).

Protein differential expression in normal tissues from HIPED for ALDH1A3 Gene

This gene is overexpressed in Milk (12.7), Amniocyte (10.4), Salivary gland (8.5), and Seminal vesicle (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ALDH1A3 Gene



NURSA nuclear receptor signaling pathways regulating expression of ALDH1A3 Gene:

ALDH1A3

SOURCE GeneReport for Unigene cluster for ALDH1A3 Gene:

Hs.459538

mRNA Expression by UniProt/SwissProt for ALDH1A3 Gene:

P47895-AL1A3_HUMAN
Tissue specificity: Expressed at low levels in many tissues and at higher levels in salivary gland, stomach, and kidney.

Evidence on tissue expression from TISSUES for ALDH1A3 Gene

  • Pancreas(4.2)
  • Nervous system(2.9)
  • Eye(2.2)
  • Lung(2.2)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ALDH1A3 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
Pelvis:
  • testicle
General:
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with ALDH1A3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for ALDH1A3 Gene

Orthologs for ALDH1A3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALDH1A3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALDH1A3 33 34
  • 99.54 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ALDH1A3 34
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALDH1A3 33 34
  • 89.45 (n)
oppossum
(Monodelphis domestica)
Mammalia ALDH1A3 34
  • 89 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ALDH1A3 33 34
  • 88.49 (n)
rat
(Rattus norvegicus)
Mammalia Aldh1a3 33
  • 88.41 (n)
mouse
(Mus musculus)
Mammalia Aldh1a3 33 16 34
  • 87.24 (n)
chicken
(Gallus gallus)
Aves ALDH6 34
  • 86 (a)
OneToOne
ALDH1A3 33
  • 77.54 (n)
lizard
(Anolis carolinensis)
Reptilia ALDH1A3 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh1a3 33
  • 73.45 (n)
zebrafish
(Danio rerio)
Actinopterygii aldh1a3 33 34
  • 68.25 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3752 35
  • 61 (a)
Aldh 34
  • 59 (a)
OneToMany
wheat
(Triticum aestivum)
Liliopsida Ta.25596 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8824 34
  • 63 (a)
OneToMany
Species where no ortholog for ALDH1A3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • worm (Caenorhabditis elegans)

Evolution for ALDH1A3 Gene

ENSEMBL:
Gene Tree for ALDH1A3 (if available)
TreeFam:
Gene Tree for ALDH1A3 (if available)

Paralogs for ALDH1A3 Gene

genes like me logo Genes that share paralogs with ALDH1A3: view

Variants for ALDH1A3 Gene

Sequence variations from dbSNP and Humsavar for ALDH1A3 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs386834230 pathogenic, not provided, Microphthalmia, isolated, 8 (MCOP8) [MIM:615113] 100,887,578(+) G/A coding_sequence_variant, missense_variant
rs397514652 pathogenic, Microphthalmia, isolated 8, Microphthalmia, isolated, 8 (MCOP8) [MIM:615113] 100,887,632(+) C/T coding_sequence_variant, missense_variant
rs397514653 pathogenic, Microphthalmia, isolated 8, Microphthalmia, isolated, 8 (MCOP8) [MIM:615113] 100,914,711(+) G/A/C coding_sequence_variant, missense_variant
rs61757679 likely-benign, Microphthalmia, isolated 8 100,895,956(+) G/A coding_sequence_variant, synonymous_variant
rs74386167 benign, Microphthalmia, isolated 8 100,885,376(+) A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ALDH1A3 Gene

Variant ID Type Subtype PubMed ID
nsv1041172 CNV gain 25217958
esv993186 CNV deletion 20482838
esv9086 CNV loss 19470904
esv4921 CNV loss 18987735
esv4123 CNV loss 18987735
esv3552946 CNV deletion 23714750
esv2750169 CNV deletion 23290073
esv2750168 CNV deletion 23290073
esv2750167 CNV deletion 23290073
esv2750166 CNV deletion 23290073
esv2750165 CNV deletion 23290073
esv2750164 CNV deletion 23290073
esv2750162 CNV deletion 23290073
esv26584 CNV loss 19812545
esv2547886 CNV deletion 19546169
esv2046145 CNV deletion 18987734
esv1484966 CNV deletion 17803354
esv1276733 CNV deletion 17803354
esv1234590 CNV deletion 17803354
dgv4787n54 CNV loss 21841781
dgv4786n54 CNV gain 21841781
dgv4785n54 CNV gain+loss 21841781
dgv4784n54 CNV gain 21841781
dgv4783n54 CNV gain+loss 21841781
dgv4782n54 CNV gain+loss 21841781
dgv4781n54 CNV gain 21841781
dgv1275n106 CNV deletion 24896259
nsv957971 CNV deletion 24416366
nsv94665 CNV deletion 16902084
nsv827467 CNV gain 20364138
nsv570827 CNV loss 21841781
nsv570826 CNV loss 21841781
nsv570825 CNV loss 21841781
nsv570816 CNV gain 21841781
nsv570804 CNV gain+loss 21841781
nsv570802 CNV gain 21841781
nsv477959 CNV novel sequence insertion 20440878
nsv476137 CNV novel sequence insertion 20440878
nsv469824 CNV loss 16826518
nsv457288 CNV loss 19166990
nsv1152655 CNV deletion 26484159
nsv1140031 CNV deletion 24896259
nsv1120708 CNV deletion 24896259

Variation tolerance for ALDH1A3 Gene

Residual Variation Intolerance Score: 11.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.89; 74.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ALDH1A3 Gene

Human Gene Mutation Database (HGMD)
ALDH1A3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALDH1A3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALDH1A3 Gene

Disorders for ALDH1A3 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ALDH1A3 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

AL1A3_HUMAN
  • Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. {ECO:0000269 PubMed:23312594, ECO:0000269 PubMed:23591992, ECO:0000269 PubMed:23646827, ECO:0000269 PubMed:23881059, ECO:0000269 PubMed:24024553, ECO:0000269 PubMed:24568872, ECO:0000269 PubMed:24777706}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ALDH1A3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ALDH1A3: view

No data available for Genatlas for ALDH1A3 Gene

Publications for ALDH1A3 Gene

  1. Molecular cloning, genomic organization, and chromosomal localization of an additional human aldehyde dehydrogenase gene, ALDH6. (PMID: 7698756) Hsu LC … Hsieh CL (Genomics 1994) 2 3 4 22 58
  2. Crystal structure of human aldehyde dehydrogenase 1A3 complexed with NAD+ and retinoic acid. (PMID: 27759097) Moretti A … Garavaglia S (Scientific reports 2016) 3 4 58
  3. Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families. (PMID: 24777706) Abouzeid H … Schorderet DF (Human mutation 2014) 3 4 58
  4. Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia. (PMID: 24568872) Semerci CN … Akarsu NA (The British journal of ophthalmology 2014) 3 4 58
  5. A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia. (PMID: 24024553) Roos L … Tümer Z (Clinical genetics 2014) 3 4 58

Products for ALDH1A3 Gene

Sources for ALDH1A3 Gene

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