Basic Information

Symbol
PYGM
RNA class
mRNA
Alias
Glycogen Phosphorylase, Muscle Associated Glycogen Phosphorylase, Muscle Form Myophosphorylase GSD5 EC 2.4.1.1 Glycogen Storage Disease Type V Phosphorylase, Glycogen; Muscle Phosphorylase, Glycogen, Muscle McArdle Syndrome
Location (GRCh38)
11:64746389-64759974
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Postmortem interval inference
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_005609.4
Sequence length
2866.0 nt
GC content
0.5768

Transcripts

ID Sequence Length GC content
NM_001164716.1 NCBI
ACUUACUGUCAUUAAACCAGUAUGAUGAUGGAGUGGGGAAUGCCUCAGU… 3369 nt 0.5803
NM_005609.4 NCBI
ACUCCUUGGCUGGAGGCAGUGCUGAGGCCGCCGUCCCCUCUACCAUCAG… 2866 nt 0.5768
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.[provided by RefSeq, Sep 2009]

Forensic Context

A study in human autopsy cases demonstrated that the PYGM gene was used as a DNA target for PCR-based integrity assessment in postmortem skeletal muscle tissue [Hansen et al. DOI:10.1007/S12024-014-9567-2]. DNA was successfully amplified from 96% of frozen and 93% of formalin-fixed paraffin-embedded (FFPE) muscle specimens, though DNA fragmentation, assessed via amplification of PYGM fragments up to 1000 bp, increased with longer postmortem intervals and was more pronounced in FFPE tissue.