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.