Gene: HAAO
Alternate names for this Gene: 3-HAO|HAO|VCRL1|h3HAO
Gene 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.
Gene is located in Chromosome: 2
Location in Chromosome : 2p21
Description of this Gene: 3-hydroxyanthranilate 3,4-dioxygenase
Type of Gene: protein-coding
Gene: MTA3
Alternate names for this Gene: -
Gene Summary:
Gene is located in Chromosome: 2
Location in Chromosome : 2p21
Description of this Gene: metastasis associated 1 family member 3
Type of Gene: protein-coding
rs1135401743 in
HAAO;MTA3 gene and
Abnormality of the ribs
PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
rs1135401743 in
HAAO;MTA3 gene and
Allanson Pantzar McLeod syndrome
PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
rs1135401743 in
HAAO;MTA3 gene and
Butterfly vertebrae
PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
rs1135401743 in
HAAO;MTA3 gene and
Defect of vertebral segmentation
PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
rs1135401743 in
HAAO;MTA3 gene and
Hypoplastic Left Heart Syndrome
PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
rs1135401743 in
HAAO;MTA3 gene and
Hypoplastic sacrum
PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
rs1135401743 in
HAAO;MTA3 gene and
Sensorineural Hearing Loss (disorder)
PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
rs1135401743 in
HAAO;MTA3 gene and
Short 1st metacarpal
PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
rs1135401743 in
HAAO;MTA3 gene and
Spina Bifida
PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
rs1135401743 in
HAAO;MTA3 gene and
Tethered Cord Syndrome
PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
rs1135401743 in
HAAO;MTA3 gene and
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1
PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.