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Gene: PYGM (glycogen phosphorylase, muscle associated) Homo sapiens
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Symbol: PYGM
Name: glycogen phosphorylase, muscle associated
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: glycogen phosphorylase, muscle form; GSD5; muscle glycogen phosphorylase; myophosphorylase; phosphorylase, glycogen, muscle; phosphorylase, glycogen, muscle (McArdle syndrome, glycogen storage disease type V)
Orthologs:
Mus musculus (house mouse) : Pygm (muscle glycogen phosphorylase)  MGI  Alliance
Rattus norvegicus (Norway rat) : Pygm (glycogen phosphorylase, muscle associated)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Pygm (glycogen phosphorylase, muscle associated)
Pan paniscus (bonobo/pygmy chimpanzee) : PYGM (glycogen phosphorylase, muscle associated)
Canis lupus familiaris (dog) : PYGM (glycogen phosphorylase, muscle associated)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Pygm (glycogen phosphorylase, muscle associated)
Sus scrofa (pig) : PYGM (glycogen phosphorylase, muscle associated)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381164,746,389 - 64,760,715 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371164,513,861 - 64,528,187 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361164,270,606 - 64,284,763 (-)NCBINCBI36hg18NCBI36
Build 341164,270,605 - 64,284,763NCBI
Celera1161,840,305 - 61,854,685 (-)NCBI
Cytogenetic Map11q13.1NCBI
HuRef1160,840,630 - 60,855,032 (-)NCBIHuRef
CHM1_11164,397,556 - 64,411,957 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on PYGM
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 737329
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2019-09-12
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.