GYG1

GYG1

A gene on chromosome 3q24-q25.1 that encodes glycogenin 1, a glycosyltransferase which catalyses the formation of a short glucose polymer from uridine diphosphate (UDP) glucose in an autoglucosylation reaction. This reaction is followed by elongation and branching of the polymer, catalysed by glycogen synthase and branching enzyme, to form glycogen.

Molecular pathology
Defects of GYG1 cause glycogen storage disease type 15.
References in periodicals archive ?
Monforte et al., "Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods," Journal of Neurology, vol.
Etiologies of NB Myopathy NB in other neuromuscular disorders AD: NEB, ACTA1, TPM3, TPM2 Myopathy Idiopathic inflammatory myopathies Acute alcoholic myopathy AR: ACTA1, TPM3, TPM2, TNNT1, Myotonic dystrophy CFL2, KBTBD13, KLHL40, Sarcoglycanopathies KLHL41, LMOD3, MYPN, MYO18B Mitochondrial myopathy GYG1 polyglucosan body myopathy Late-onset Pompe disease Acquired Neuropathy MGUS Spinal muscular atrophy HIV-associated myopathy Amyotrophic lateral sclerosis Charcot-Marie-Tooth disease Other Hypothyroidism Chronic renal failure Keys: genes are written in italic font; AD, autosomal dominant; AR, autosomal recessive; NB, nemaline body; MGUS, monoclonal gammopathy of undetermined significance.
The proteins in cluster 2 were classified together mainly because they were downregulated at the proliferation stage and changed slightly, even a little, at other time points including NANS, CACNA1A, and GYG1. The third cluster mainly included proteins downregulated at priming stage and upregulated at the proliferation stage such as ARSA, PPP1CB, NCOR1, HK3, and CDK4.