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

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

rs527656756 in MTA3;HAAO gene and 11 pairs of ribs PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

rs527656756 in MTA3;HAAO gene and Abnormality of the ribs PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

rs527656756 in MTA3;HAAO gene and Aplasia of the semicircular canal PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

rs527656756 in MTA3;HAAO gene and Atrial Septal Defects PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

rs527656756 in MTA3;HAAO gene and Bifid uvula PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

rs527656756 in MTA3;HAAO gene and Congenital hypoplasia of kidney PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

rs527656756 in MTA3;HAAO gene and Defect of vertebral segmentation PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

rs527656756 in MTA3;HAAO gene and Global developmental delay PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

rs527656756 in MTA3;HAAO gene and Hypoplastic cervical vertebrae PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

rs527656756 in MTA3;HAAO gene and Hypoplastic sacrum PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

rs3816183 in MTA3;HAAO gene and Hypospadias PMID 25108383 2014 Genome-wide association analyses identify variants in developmental genes associated with hypospadias.

rs527656756 in MTA3;HAAO gene and Incomplete partition of the cochlea type II PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

rs527656756 in MTA3;HAAO gene and Laryngeal web PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

rs527656756 in MTA3;HAAO gene and Laryngotracheomalacia PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

rs527656756 in MTA3;HAAO gene and Poor school performance PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

rs527656756 in MTA3;HAAO gene and Recurrent otitis media PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

rs527656756 in MTA3;HAAO gene and Sensorineural hearing loss, bilateral PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

rs527656756 in MTA3;HAAO gene and Short stature PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

rs527656756 in MTA3;HAAO gene and Submucous cleft of hard palate PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

rs527656756 in MTA3;HAAO gene and Talipes PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

rs527656756 in MTA3;HAAO gene and VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

rs527656756 in MTA3;HAAO gene and Vesico-Ureteral Reflux PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

rs1065643 in MTA3;HAAO gene and response to aromatase inhibitor PMID 30648747 2019 Anastrozole Aromatase Inhibitor Plasma Drug Concentration Genome-Wide Association Study: Functional Epistatic Interaction Between SLC38A7 and ALPPL2.