Gene: DBNL

Alternate names for this Gene: ABP1|HIP-55|HIP55|SH3P7

Gene Summary:

Gene is located in Chromosome: 7

Location in Chromosome : 7p13

Description of this Gene: drebrin like

Type of Gene: protein-coding

Gene: PGAM2

Alternate names for this Gene: GSD10|PGAM-M|PGAMM

Gene Summary: Phosphoglycerate mutase (PGAM) catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. The PGAM is a dimeric enzyme containing, in different tissues, different proportions of a slow-migrating muscle (MM) isozyme, a fast-migrating brain (BB) isozyme, and a hybrid form (MB). This gene encodes muscle-specific PGAM subunit. Mutations in this gene cause muscle phosphoglycerate mutase eficiency, also known as glycogen storage disease X.

Gene is located in Chromosome: 7

Location in Chromosome : 7p13

Description of this Gene: phosphoglycerate mutase 2

Type of Gene: protein-coding

rs104894030 in DBNL;PGAM2 gene and Glycogen storage disease type X PMID 8447317 1993 The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency.

PMID 10545043 1999 Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene.

rs750422335 in DBNL;PGAM2 gene and Rhabdomyolysis PMID 28779239 2017 Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.