HAAO - 3-hydroxyanthranilate 3,4-dioxygenase Gene

Homo sapiens

Also known as HAO; 3-HAO; VCRL1; h3HAO

Gene ID: 23498 | Gene type: protein coding

About HAAO

Cytogenetic location: 2p21 Genomic coordinates (GRCh38): 2:42,767,089-42,792,583 (from NCBI)

This gene has 7 transcripts (splice variants), 199 orthologues and is associated with 3 phenotypes. Biased expression in liver (RPKM 28.1), kidney (RPKM 12.5) and 13 other tissues.

Summary

3-Hydroxyanthranilate 3,4-dioxygenase is a monomeric cytosolic protein belonging to the family of intramolecular dioxygenases containing nonheme ferrous iron. It is widely distributed in peripheral organs, such as liver and kidney, and is also present in low amounts in the central nervous system. HAAO catalyzes the synthesis of quinolinic acid (QUIN) from 3-hydroxyanthranilic acid. QUIN is an excitotoxin whose toxicity is mediated by its ability to activate glutamate N-methyl-D-aspartate receptors. Increased cerebral levels of QUIN may participate in the pathogenesis of neurologic and inflammatory disorders. HAAO has been suggested to play a role in disorders associated with altered tissue levels of QUIN. [provided by RefSeq, Jul 2008]

HAAO Products(1)

mRNA	Protein	Name
NM_012205.3	NP_036337.2	3-hydroxyanthranilate 3,4-dioxygenase

HAAO Protein Structure

3-HAO

0
100
200
286 a.a.

Protein Preferred Names

Protein Names

3-hydroxyanthranilate 3,4-dioxygenase

3-hydroxyanthranilate oxygenase

Recombinant HAAO Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76962	HAAO Protein, Human (sf9, His-GST)	P46952 (M1-G286)	≥95%

Related Diseases

Diseases

Alias

Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1

VCRL1	Congenital Nad Deficiency Disorder 1
3-Hydroxyanthranilic Acidemia

Congenital Vertebral-Cardiac-Renal Anomalies Syndrome

Congenital Nad Deficiency Disorder

Hydroxykynureninuria

Xanthurenic Aciduria	Kynureninase Deficiency
Kynureninase Deficiency, Partial	HYXKY
Partial Kynureninase Deficiency

Huntington Disease

Huntington'S Disease	Huntington Chorea
Huntington'S Chorea	HD
Huntington Chronic Progressive Hereditary Chorea	Juvenile Huntington Disease
Chronic Progressive Chorea	Chronic Progressive Hereditary Chorea
Hc - [Huntington Chorea]	Hereditary Chorea
Progressive Hereditary Chorea

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05981	HAAO Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	HAAO	VGNC	VGNC:67530
Rattus norvegicus	HAAO	RGD	RGD:71071
Mus musculus	HAAO	MGD	MGI:1349444
Bos taurus	HAAO	VGNC	VGNC:29735
Macaca mulatta	HAAO	VGNC	VGNC:106169
Canis familiaris	HAAO	VGNC	VGNC:41580
Others	HAAO	NCBI