HAAO gene

3-hydroxyanthranilate 3,4-dioxygenase

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Catalyzes the oxidative ring opening of 3-hydroxyanthranilate to 2-amino-3-carboxymuconate semialdehyde, which spontaneously cyclizes to quinolinate.

From NCBI Gene:

  • VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1

From UniProt:

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. [MIM:617660]

Cytogenetic Location: 2p21, which is the short (p) arm of chromosome 2 at position 21

Molecular Location: base pairs 42,767,087 to 42,801,002 on chromosome 2 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 2p21, which is the short (p) arm of chromosome 2 at position 21
  • 3-HAO
  • h3HAO
  • HAO
  • VCRL1