Gene: TOP1MT

Alternate names for this Gene: -

Gene Summary: This gene encodes a mitochondrial DNA topoisomerase that plays a role in the modification of DNA topology. The encoded protein is a type IB topoisomerase and catalyzes the transient breaking and rejoining of DNA to relieve tension and DNA supercoiling generated in the mitochondrial genome during replication and transcription. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Gene is located in Chromosome: 8

Location in Chromosome : 8q24.3

Description of this Gene: DNA topoisomerase I mitochondrial

Type of Gene: protein-coding

rs62524728 in TOP1MT gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.