Myophosphorylase
| phosphorylase, glycogen; muscle (McArdle syndrome, glycogen storage disease type V) | |
|---|---|
| File:3MSC.png
Myophosphorylase[1]
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| Identifiers | |
| Symbol | PYGM |
| Entrez | 5837 |
| HUGO | 9726 |
| OMIM | 608455 |
| RefSeq | NM_005609 |
| UniProt | P11217 |
| Other data | |
| EC number | 2.4.1.1 |
| Locus | Chr. 11 q12-q13.2 |
Myophosphorylase is the muscle isoform of the enzyme glycogen phosphorylase. This enzyme helps break down glycogen (a form of stored carbohydrate) into glucose-1-phosphate (not glucose), so that it can be utilized within the muscle cell.
Clinical significance
A deficiency is associated with Glycogen storage disease type V, also known as "McArdle's Syndrome".
A case study suggested that a deficiency in myophosphorylase may be linked with cognitive impairment. Besides muscle, this isoform is present in astrocytes, where it plays a key role in neural energy metabolism. A 55-year-old woman with McArdle disease has expressed cognitive impairment with bilateral dysfunction of prefrontal and frontal cortex. Further studies are needed to assess the validity of this claim.[2]
References
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<references />, or <references group="..." />External links
- Myophosphorylase at the US National Library of Medicine Medical Subject Headings (MeSH)
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