RBCC Red Blood Cell Collection

PYGL_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: PYGL
Protein names and data: PYGL_HUMAN , Glycogen phosphorylase, liver form; 2.4.1.1 Lenght: 847 a.a.
Mass: 97149 Da
fasta formatted sequence
Function: Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties.
Catalytic activity: ((1->4)-alpha-D-glucosyl)(n) + phosphate = ((1->4)-alpha-D-glucosyl)(n-1) + alpha-D-glucose 1-phosphate.
Disease: ( OMIM: 232700 613741 ) Glycogen storage disease 6 (GSD6) [MIM:232700]: A metabolic disorder characterized by mild to moderate hypoglycemia, mild ketosis, growth retardation, and prominent hepatomegaly. Heart and skeletal muscle are not affected. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genetic variants

222 - 222 V -> I (in dbSNP:rs946616). VAR_007907 946616
231 - 231 V -> E (in dbSNP:rs1042195). VAR_013095 1042195
339 - 339 N -> S (in GSD6). VAR_007908
377 - 377 N -> K (in GSD6). VAR_007909
425 - 425 R -> P (in dbSNP:rs2228499). VAR_034425 2228499
698 - 698 V -> G (in dbSNP:rs35831273). VAR_034426 35831273
715 - 715 R -> S (in dbSNP:rs1042210). VAR_013096 1042210
806 - 806 I -> L (in dbSNP:rs34313873). VAR_034427 34313873
845 - 845 N -> S (in dbSNP:rs78558135). VAR_069054 78558135

Database cross-references

UniProt: P06737
Ensembl: ENST00000216392
Ensembl: ENST00000544180
MIM: 232700
MIM: 613741
neXtProt: NX_P06737
Antibodypedia: P06737 (may not find the protein thus also not any antibody)
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