Myophosphorylase

Myophosphorylase
phosphorylase, glycogen; muscle (McArdle syndrome, glycogen storage disease type V)
3MSC.png
Myophosphorylase[1]
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.

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

External links

2.4.2: Pentosyl-
transferases
2.4.99: Sialyl
transferases
B enzm: 1.1/2/3/4/5/6/7/8/10/11/13/14/15-18, 2.1/2/3/4/5/6/7/8, 2.7.10, 2.7.11-12, 3.1/2/3/4/5/6/7, 3.1.3.48, 3.4.21/22/23/24, 4.1/2/3/4/5/6, 5.1/2/3/4/99, 6.1-3/4/5-6

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