Gene: RUVBL2

Alternate names for this Gene: CGI-46|ECP-51|ECP51|INO80J|REPTIN|RVB2|TAP54-beta|TIH2|TIP48|TIP49B

Gene Summary: This gene encodes the second human homologue of the bacterial RuvB gene. Bacterial RuvB protein is a DNA helicase essential for homologous recombination and DNA double-strand break repair. Functional analysis showed that this gene product has both ATPase and DNA helicase activities. This gene is physically linked to the CGB/LHB gene cluster on chromosome 19q13.3, and is very close (55 nt) to the LHB gene, in the opposite orientation.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.33

Description of this Gene: RuvB like AAA ATPase 2

Type of Gene: protein-coding

Gene: GYS1

Alternate names for this Gene: GSY|GYS

Gene Summary: The protein encoded by this gene catalyzes the addition of glucose monomers to the growing glycogen molecule through the formation of alpha-1,4-glycoside linkages. Mutations in this gene are associated with muscle glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.33

Description of this Gene: glycogen synthase 1

Type of Gene: protein-coding