Gene: SENP1

Alternate names for this Gene: SuPr-2

Gene Summary: This gene encodes a cysteine protease that specifically targets members of the small ubiquitin-like modifier (SUMO) protein family. This protease regulates SUMO pathways by deconjugating sumoylated proteins. This protease also functions to process the precursor SUMO proteins into their mature form. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.11

Description of this Gene: SUMO specific peptidase 1

Type of Gene: protein-coding

Gene: PFKM

Alternate names for this Gene: ATP-PFK|GSD7|PFK-1|PFK-A|PFK1|PFKA|PFKX|PPP1R122

Gene Summary: Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.11

Description of this Gene: phosphofructokinase, muscle

Type of Gene: protein-coding