Gene: NUDT5

Alternate names for this Gene: YSA1|YSA1H|YSAH1|hNUDT5

Gene Summary: This gene belongs to the Nudix (nucleoside diphosphate linked moiety X) hydrolase superfamily. The encoded enzyme catalyzes the hydrolysis of modified nucleoside diphosphates, including ADP-ribose (ADPR) and 8-oxoGua-containing 8-oxo-dADP and 8-oxo-dGDP. Protein-bound ADP ribose can be hazardous to the cell because it can modify some amino acid residues, resulting in the inhibition of ATP-activated potassium channels. 8-oxoGua is an oxidized form of guanine that can potentially alter genetic information by pairing with adenine and cytosine in RNA. Presence of 8-oxoGua in RNA results in formation of abnormal proteins due to translational errors.

Gene is located in Chromosome: 10

Location in Chromosome : 10p14

Description of this Gene: nudix hydrolase 5

Type of Gene: protein-coding

Gene: SEC61A2

Alternate names for this Gene: -

Gene Summary: The protein encoded by this gene has similarity to a mouse protein which suggests a role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. It may also be required for the assembly of membrane and secretory proteins. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 10

Location in Chromosome : 10p14

Description of this Gene: SEC61 translocon subunit alpha 2

Type of Gene: protein-coding

rs6686 in NUDT5;SEC61A2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.