AOX1

aldehyde oxidase 1

Basic information

Region (hg38): 2:200586013-200677064

Links

ENSG00000138356 ∙ NCBI:316 ∙ OMIM:602841 ∙ HGNC:553 ∙ Uniprot:Q06278 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the AOX1 gene.

• Inborn genetic diseases (37 variants)
• not provided (15 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AOX1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				5	5	10
missense			33	4	3	40
nonsense			1			1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1	1	2
non coding						0
Total	0	0	34	9	8

Variants in AOX1

This is a list of pathogenic ClinVar variants found in the AOX1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-200586118-G-C		not specified	Uncertain significance (Mar 28, 2022)
2-200593146-G-A		not specified	Uncertain significance (Aug 04, 2023)
2-200595281-C-T		not specified	Uncertain significance (May 26, 2022)
2-200597423-T-C		not specified	Likely benign (Aug 13, 2021)
2-200597428-A-G		not specified	Uncertain significance (Jan 03, 2024)
2-200599660-G-A		not specified	Uncertain significance (May 16, 2023)
2-200599687-A-G		not specified	Uncertain significance (Nov 09, 2021)
2-200599700-G-A			Benign (Dec 31, 2019)
2-200603314-T-A		not specified	Uncertain significance (Jul 30, 2023)
2-200604024-C-T		not specified	Uncertain significance (Mar 22, 2023)
2-200604062-C-G		not specified	Uncertain significance (Jun 07, 2023)
2-200604743-G-A			Likely benign (Apr 19, 2018)
2-200604790-T-G		not specified	Uncertain significance (Jan 25, 2023)
2-200605551-T-A		not specified	Uncertain significance (Jan 31, 2024)
2-200605631-G-A			Benign (Aug 17, 2018)
2-200608996-G-A		not specified	Uncertain significance (Aug 23, 2021)
2-200609017-A-G			Benign (May 16, 2018)
2-200609355-A-T		not specified	Uncertain significance (Apr 17, 2023)
2-200611393-G-A		not specified	Uncertain significance (Jan 10, 2022)
2-200611396-A-T		not specified	Uncertain significance (Jun 21, 2022)
2-200612648-G-T		not specified	Uncertain significance (Oct 06, 2020)
2-200612651-A-G		not specified	Uncertain significance (Oct 17, 2023)
2-200613804-G-A			Likely benign (Jul 19, 2018)
2-200613838-A-G		not specified	Uncertain significance (Sep 14, 2022)
2-200613862-C-G		not specified	Uncertain significance (Oct 18, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AOX1	protein_coding	protein_coding	ENST00000374700	35	91197

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.17e-31	0.0719	125327	2	419	125748	0.00168

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.180	731	745	0.981	0.0000392	8774
Missense in Polyphen		281	282.13	0.996		3379
Synonymous	-0.120	274	271	1.01	0.0000155	2555
Loss of Function	2.02	59	78.3	0.753	0.00000442	910

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00339	0.00338
Ashkenazi Jewish	0.00	0.00
East Asian	0.00142	0.00141
Finnish	0.000416	0.000416
European (Non-Finnish)	0.00211	0.00209
Middle Eastern	0.00142	0.00141
South Asian	0.00180	0.00173
Other	0.00213	0.00212

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Oxidase with broad substrate specificity, oxidizing aromatic azaheterocycles, such as N1-methylnicotinamide, N- methylphthalazinium and phthalazine, as well as aldehydes, such as benzaldehyde, retinal, pyridoxal, and vanillin. Plays a key role in the metabolism of xenobiotics and drugs containing aromatic azaheterocyclic substituents. Participates in the bioactivation of prodrugs such as famciclovir, catalyzing the oxidation step from 6-deoxypenciclovir to penciclovir, which is a potent antiviral agent. Is probably involved in the regulation of reactive oxygen species homeostasis. May be a prominent source of superoxide generation via the one-electron reduction of molecular oxygen. Also may catalyze nitric oxide (NO) production via the reduction of nitrite to NO with NADH or aldehyde as electron donor. May play a role in adipogenesis. {ECO:0000269|PubMed:20444863, ECO:0000269|PubMed:22031625, ECO:0000269|PubMed:22279051, ECO:0000269|PubMed:22522748, ECO:0000269|PubMed:22996261, ECO:0000269|PubMed:23857892, ECO:0000269|PubMed:26322824, ECO:0000269|PubMed:7786031, ECO:0000269|PubMed:9224775}.
• Pathway: Tryptophan metabolism - Homo sapiens (human);Retinol metabolism - Homo sapiens (human);Jak-STAT signaling pathway - Homo sapiens (human);Nicotinate and nicotinamide metabolism - Homo sapiens (human);nicotine degradation III;Drug metabolism - cytochrome P450 - Homo sapiens (human);Vitamin B6 metabolism - Homo sapiens (human);Valine, leucine and isoleucine degradation - Homo sapiens (human);Tyrosine metabolism - Homo sapiens (human);Nicotine Pathway, Pharmacokinetics;Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics;Mercaptopurine Action Pathway;Azathioprine Action Pathway;Citalopram Action Pathway;3-Methylglutaconic Aciduria Type I;Valine, Leucine and Isoleucine Degradation;2-Methyl-3-Hydroxybutryl CoA Dehydrogenase Deficiency;Nicotinate and Nicotinamide Metabolism;Hypophosphatasia;Citalopram Metabolism Pathway;Nicotine Metabolism Pathway;Nicotine Action Pathway;Thioguanine Action Pathway;Isovaleric Aciduria;3-Methylcrotonyl Coa Carboxylase Deficiency Type I;Propionic Acidemia;Maple Syrup Urine Disease;Vitamin B6 Metabolism;3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency;Isobutyryl-coa dehydrogenase deficiency;3-hydroxyisobutyric aciduria;3-hydroxyisobutyric acid dehydrogenase deficiency;Isovaleric acidemia;Tryptophan Metabolism;Methylmalonate Semialdehyde Dehydrogenase Deficiency;Methylmalonic Aciduria;3-Methylglutaconic Aciduria Type IV;3-Methylglutaconic Aciduria Type III;Mercaptopurine Metabolism Pathway;Beta-Ketothiolase Deficiency;Nicotine Metabolism;Effects of Nitric Oxide;Tryptophan metabolism;Metabolism;Vitamins B6 activation to pyridoxal phosphate;Metabolism of water-soluble vitamins and cofactors;Metabolism of vitamins and cofactors;Tryptophan degradation;Vitamin B6 metabolism;nicotine degradation IV (Consensus)

Recessive Scores

• pRec: 0.401

Intolerance Scores

• loftool: 0.979
• rvis_EVS: -1.23
• rvis_percentile_EVS: 5.56

Haploinsufficiency Scores

• pHI: 0.151
• hipred: Y
• hipred_score: 0.655
• ghis: 0.438

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.974

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Aox1

Gene ontology

• Biological process: xanthine catabolic process;drug metabolic process;electron transport chain;vitamin B6 metabolic process;oxidation-reduction process
• Cellular component: cytosol;extracellular exosome
• Molecular function: aldehyde oxidase activity;xanthine dehydrogenase activity;iron ion binding;electron transfer activity;identical protein binding;protein homodimerization activity;molybdopterin cofactor binding;flavin adenine dinucleotide binding;NAD binding;2 iron, 2 sulfur cluster binding;FAD binding;geranial:oxygen oxidoreductase activity;heptaldehyde:oxygen oxidoreductase activity