RBCC

GYS1_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: GYS1 , GYS
Protein names and data: GYS1_HUMAN , Glycogen [starch] synthase, muscle; 2.4.1.11 Lenght: 737 a.a.
Mass: 83786 Da
fasta formatted sequence
Function: Transfers the glycosyl residue from UDP-Glc to the non- reducing end of alpha-1,4-glucan.
Catalytic activity: UDP-glucose ((1->4)-alpha-D-glucosyl)(n) = UDP + ((1->4)-alpha-D-glucosyl)(n+1).
Pathway: Glycan biosynthesis; glycogen biosynthesis.
Disease: ( OMIM: 138570 611556 ) Muscle glycogen storage disease 0 (GSD0b) [MIM:611556]: Metabolic disorder characterized by fasting hypoglycemia presenting in infancy or early childhood. The role of muscle glycogen is to provide critical energy during bursts of activity and sustained muscle work. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genetic variants

108 - 108 I -> M (in dbSNP:rs5455). VAR_037958 5455
130 - 130 K -> E (in dbSNP:rs5456). VAR_014727 5456
283 - 283 N -> S (in dbSNP:rs5461). VAR_014728 5461
359 - 359 E -> G (in dbSNP:rs5465). VAR_014729 5465
416 - 416 M -> V (in dbSNP:rs5447). VAR_014730 5447
464 - 464 G -> S (in NIDDM). VAR_007859
619 - 619 E -> Q (in dbSNP:rs5450). VAR_014731 5450
691 - 691 P -> A (in dbSNP:rs5453). VAR_014732 5453

Database cross-references

UniProt: P13807
Ensembl: ENST00000263276
Ensembl: ENST00000323798
MIM: 138570
MIM: 611556
neXtProt: NX_P13807
Antibodypedia: P13807 (may not find the protein thus also not any antibody)
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RBCC Red Blood Cell Collection

GYS1_HUMAN

Genetic variants

Database cross-references

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