RBCC Red Blood Cell Collection

GLYG_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: GYG1 , GYG
Protein names and data: GLYG_HUMAN , Glycogenin-1; GN-1; GN1; 2.4.1.186 Lenght: 350 a.a.
Mass: 39384 Da
fasta formatted sequence
Function: Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase.
Catalytic activity: UDP-alpha-D-glucose + glycogenin = UDP + alpha-D-glucosylglycogenin.
Pathway: Glycan biosynthesis; glycogen biosynthesis.
Disease: ( OMIM: 603942 613507 ) Glycogen storage disease 15 (GSD15) [MIM:613507]: A metabolic disorder resulting in muscle weakness, associated with the glycogen depletion in skeletal muscle, and cardiac arrhythmia, associated with the accumulation of abnormal storage material in the heart. The skeletal muscle shows a marked predominance of slow-twitch, oxidative muscle fibers and mitochondrial proliferation. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genetic variants

83 - 83 T -> M (in GSD15; inactivation of the autoglucosylation). VAR_063768

Database cross-references

UniProt: P46976
Ensembl: ENST00000296048
Ensembl: ENST00000345003
Ensembl: ENST00000484197
MIM: 603942
MIM: 613507
neXtProt: NX_P46976
Antibodypedia: P46976 (may not find the protein thus also not any antibody)
Local full text data: click here

Users' comments

Login to add a comment.

© Hegelab and Biomembrane 2013; Powered by TurboGears 2