HAAO
Function
Catalyzes the oxidative ring opening of 3-hydroxyanthranilate to 2-amino-3-carboxymuconate semialdehyde, which spontaneously cyclizes to quinolinate.
Involvement in disease
Vertebral, cardiac, renal, and limb defects syndrome 1
VCRL1
An autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Cofactor biosynthesis; NAD(+) biosynthesis; quinolinate from L-kynurenine: step 3/3.
Sequence Similarities
Belongs to the 3-HAO family.
Cellular localization
- Cytoplasm
- Cytosol
Alternative names
3-hydroxyanthranilate oxygenase, 3-hydroxyanthranilic acid dioxygenase, 3-HAO, h3HAO, HAD, HAAO