Gene: PYGM

Alternate names for this Gene: GSD5

Gene Summary: This gene encodes a muscle enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes are found in liver and brain. Mutations in this gene are associated with McArdle disease (myophosphorylase deficiency), a glycogen storage disease of muscle. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.1

Description of this Gene: glycogen phosphorylase, muscle associated

Type of Gene: protein-coding

Gene: RASGRP2

Alternate names for this Gene: CALDAG-GEFI|CDC25L

Gene Summary: The protein encoded by this gene is a brain-enriched nucleotide exchanged factor that contains an N-terminal GEF domain, 2 tandem repeats of EF-hand calcium-binding motifs, and a C-terminal diacylglycerol/phorbol ester-binding domain. This protein can activate small GTPases, including RAS and RAP1/RAS3. The nucleotide exchange activity of this protein can be stimulated by calcium and diacylglycerol. Four alternatively spliced transcript variants encoding two different isoforms have been found for this gene.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.1

Description of this Gene: RAS guanyl releasing protein 2

Type of Gene: protein-coding

rs119103258 in PYGM;RASGRP2 gene and Glycogen Storage Disease Type V PMID 29143597 2017 Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.

PMID 22250184 2012 Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry.

PMID 17994553 2008 Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay.

PMID 17630210 2007 Genotype modulators of clinical severity in McArdle disease.

PMID 10590419 2000 A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease.

PMID 11706962 2001 Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study.

PMID 10681080 2000 A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease.

PMID 17221871 2007 A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.

PMID 14722619 2004 CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations.

PMID 16786513 2006 McArdle disease: the mutation spectrum of PYGM in a large Italian cohort.

PMID 17324573 2007 Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: identification of 10 new mutations. Absence of genotype-phenotype correlation.

PMID 11168025 2001 Resolution of a mispaired secondary structure intermediate could account for a novel micro-insertion/deletion (387 insA/del 8 bp) in the PYGM gene causing McArdle's disease.

PMID 25740218 2015 Diagnostic power of the non-ischaemic forearm exercise test in detecting glycogenosis type V.

PMID 17404776 2007 Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations.

PMID 9506549 1998 Mutation analysis in myophosphorylase deficiency (McArdle's disease).

PMID 22832773 2013 Resistance (weight lifting) training in an adolescent with McArdle disease.

PMID 9633816 1998 Molecular diagnosis of McArdle disease: revised genomic structure of the myophosphorylase gene and identification of a novel mutation.

PMID 25240406 2014 PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease?

PMID 28967462 2017 Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease.