GYG1 - glycogenin 1 Gene

Homo sapiens

Also known as GYG; GSD15

Gene ID: 2992 | Gene type: protein coding

About GYG1

Cytogenetic location: 3q24 Genomic coordinates (GRCh38): 3:148,991,540-149,031,775 (from NCBI)

This gene has 14 transcripts (splice variants), 278 orthologues, 1 paralogue and is associated with 4 phenotypes. Broad expression in bone marrow (RPKM 53.8), testis (RPKM 49.1) and 25 other tissues.

Summary

This gene encodes a member of the glycogenin family. Glycogenin is a glycosyltransferase that catalyzes the formation of a short glucose polymer from uridine diphosphate glucose in an autoglucosylation reaction. This reaction is followed by elongation and branching of the polymer, catalyzed by glycogen synthase and branching Enzyme, to form glycogen. This gene is expressed in muscle and other tissues. Mutations in this gene result in glycogen storage disease XV. This gene has pseudogenes on chromosomes 1, 8 and 13 respectively. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]

GYG1 Products(3)

mRNA	Protein	Name
NM_001184720.2	NP_001171649.1	glycogenin-1 isoform 2
NM_001184721.2	NP_001171650.1	glycogenin-1 isoform 3
NM_004130.4	NP_004121.2	glycogenin-1 isoform 1

GYG1 Protein Structure

Glyco_transf_8

0
100
200
300
350 a.a.

Protein Preferred Names

Protein Names

glycogenin-1

GN-1

Related Diseases

Diseases

Alias

Glycogen Storage Disease Xv

GSD15	Gsd Xv
Glycogenin Deficiency	Gyg1 Deficiency
Glycogen Storage Disease Type Xv	Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Gsd Type 15	Gsd Type Xv
Gsd With Severe Cardiomyopathy Due To Glycogenin Deficiency	Glycogen Storage Disease Type 15
Glycogenosis Type 15	Glycogenosis Type Xv
Glycogenosis With Severe Cardiomyopathy Due To Glycogenin Deficiency	Glycogen Storage Disease 15
Storage Disease, Glycogen, Type Xv

Polyglucosan Body Myopathy 2

Polyglucosan Body Myopathy Type 2	PGBM2
Myopathy, Polyglucosan Body, Type 2

Glycogen Storage Disease

Glycogenosis	Glycogenoses
Gsd	Storage Disease, Glycogen
Gsd - [Glycogen Storage Disease]	Glycogen Thesaurismosis
Diffuse Glycogenosis	Generalised Glycogen Storage Disease
Generalised Glycogenosis	Generalised Glycogen Storage Disease Of Infants
Glycogen Synthase Deficiency

Myoclonic Epilepsy Of Lafora

Lafora Disease	Epilepsy, Progressive Myoclonic 2b
EPM2	Melf
Epilepsy, Progressive Myoclonic 2a	Epm2a
Lafora'S Disease	Lafora Body Disease
Lbd	Epilepsy, Progressive Myoclonic, 2a
Lafora Progressive Myoclonic Epilepsy	Epilepsy Progressive Myoclonic 2
Lafora Body Disorder	Pme Type 2
Progressive Myoclonic Epilepsy Type 2	Progressive Myoclonus Epilepsy Type 2
Epilepsy, Progressive Myoclonic 2	Epm2b
Ld	Progressive Myoclonic Epilepsy 2
Progressive Myoclonic Epilepsy 2a	Progressive Myoclonic Epilepsy 2b
Progressive Myoclonic Epilepsy Lafora Type	Epilepsy, Myoclonic, Of Lafora

Glycogen Storage Disease Type 0

Glycogen Synthase Deficiency	Glycogen Storage Disease 0
Glycogen Synthetase Deficiency	Gsd 0
Gsd Type 0	Hypoglycemia With Deficiency Of Glycogen Synthetase

Glycogen Storage Disease Vi

Glycogen Storage Disease Type Vi	Hers Disease
GSD6	Gsd Vi
Hepatic Glycogen Phosphorylase Deficiency	Phosphorylase Deficiency Glycogen-Storage Disease Of Liver
Hers' Disease	Glycogen Storage Disease Type 6
Glycogen Storage Disease 6	Gsd Type Vi
Glycogenosis Type Vi	Glycogen Storage Disease, Type Vi
Hepatophosphorylase Deficiency Glycogenosis	Liver Phosphorylase Deficiency Syndrome
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Gsd Due To Liver Glycogen Phosphorylase Deficiency
Gsd Type 6	Glycogenosis Due To Liver Glycogen Phosphorylase Deficiency
Glycogenosis Type 6	Hepatic Phosphorylase Deficiency
Liver Glycogen Phosphorylase Deficiency	Her
Glycogen Storage Disease Vib	Gsd-Vi
Liver Phosphorylase Deficiency	Storage Disease, Glycogen, Type Vi

Glycogen Storage Disease Iii

Glycogen Storage Disease Type Iii	Forbes Disease
Cori Disease	Glycogen Storage Disease Iiia
Amylo-1,6-Glucosidase Deficiency	Glycogen Storage Disease Iiib
Limit Dextrinosis	GSD3
Agl Deficiency	Glycogen Debrancher Deficiency
Gde Deficiency	Glycogen Storage Disease Iiic
Debrancher Deficiency	Glycogen Storage Disease Type 3
Glycogenosis Type Iii	Glycogen Storage Disease Iiid
Amylo 1,6 Glucosidase Deficiency	Deficiency Of Debranching Enzyme
Deficiency Of Dextrin	Glycogen Storage Disease, Type Iii
Glycogen Debranching Enzyme Deficiency	Cori'S Disease
Gsd Iii	Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Cori-Forbes Disease	Gsd Due To Glycogen Debranching Enzyme Deficiency
Gsd Type 3	Gsdiii
Glycogenosis Due To Glycogen Debranching Enzyme Deficiency	Glycogenosis Type 3
Glycogen Storage Disease 3	Glycogen Debranching Enzyme Deficiency
Gsd-Iii	Gsd Iiia
Gsd Iiib	Gsd Iiic
Gsd Iiid	Storage Disease, Glycogen, Type Iii

Myopathy

Muscular Diseases

Myopathies

Progressive Myoclonus Epilepsy

Pme	Progressive Myoclonic Epilepsy
Myoclonic Epilepsies, Progressive	Unverricht-Lundborg Syndrome

Glycogen Storage Disease Ia

Von Gierke Disease	Glycogen Storage Disease Type I
Glycogen Storage Disease I	Hepatorenal Form Of Glycogen Storage Disease
Hepatorenal Glycogenosis	Glucose-6-Phosphatase Deficiency
Glycogen Storage Disease, Type I	Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ia
GSD1A	Gsd1
Von Gierke'S Disease	Glycogen Storage Disease Type 1a
Glycogen Storage Disease 1a	Glucose-6-Phosphate Transport Defect
Gsd Ia	Deficiency Of Glucose-6-Phosphatase
Glycogenosis Type I	Glucose-6-Phosphatase Deficiency Glycogen Storage Disease
Glycogenosis Type 1	Glucose-6-Phosphate Deficiency
Gsd I	Gsd Type I
G6p Deficiency Type 1a	Gsd Due To G6p Deficiency Type 1a
Gsd Due To G6p Deficiency Type Ia	Gsd Type 1a
Gsdia	Glycogen Storage Disease Due To G6p Deficiency Type Ia
Glycogenosis Due To Glucose-6-Phosphatase Deficiency Type 1a	Glycogenosis Due To Glucose-6-Phosphatase Deficiency Type Ia
Glycogenosis Type Ia	Gsd-Ia
Storage Disease, Glycogen, Type 1a	Glycogen Storage Disease Type Ia

Glycogen Storage Disease Ii

Pompe Disease	Glycogen Storage Disease Type Ii
Acid Maltase Deficiency	Gsd Ii
Gaa Deficiency	Alpha-1,4-Glucosidase Deficiency
Glycogenosis Type Ii	GSD2
Acid Alpha-Glucosidase Deficiency	Amd
Glycogen Storage Disease, Type Ii	Pompe'S Disease
Glycogen Storage Disease Type 2	Cardiomegalia Glycogenica Diffusa
Acid Maltase Deficiency Disease	Deficiency Of Alpha-Glucosidase
Glycogenosis, Generalized, Cardiac Form	Deficiency Of Glucoamylase
Deficiency Of Maltase	Generalized Glycogenosis
Glycogenosis, Type 2	Lysosomal Alpha-1,4-Glucosidase Deficiency
Glucosidase Acid-1,4-Alpha Deficiency	Aglucosidase Alfa
Deficiency Of Lysosomal Alpha-Glucosidase	Glycogen Storage Disease Due To Acid Maltase Deficiency
Alpha-1,4-Glucosidase Acid Deficiency	Gsd Due To Acid Maltase Deficiency
Gsd Type 2	Gsd Type Ii
Glycogenosis Due To Acid Maltase Deficiency	Glycogenosis Type 2
Glycogen Storage Disease 2	Cardiomegalia Glycogenica
Glycogenosis Generalized Cardiac Form	Glycogenosis Ii
Gsd-Ii	Storage Disease, Glycogen, Type Ii
Generalized Glycogen Storage Disease Of Infants	Cardiac Form Of Generalized Glycogenosis

Isolated Elevated Serum Creatine Phosphokinase Levels

Elevated Serum Cpk	Idiopathic Hyperckemia
Isolated Hyperckemia	Elevated Serum Creatine Phosphokinase
H-Ck	Idiopathic Persistent Elevation Of Serum Creatine Kinase

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05930	GYG1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	GYG1	VGNC	VGNC:41572
Mus musculus	GYG1	MGD	MGI:1351614
Bos taurus	GYG1	VGNC	VGNC:29728
Macaca mulatta	GYG1	VGNC	VGNC:73332
Felis catus	GYG1	VGNC	VGNC:67521
Rattus norvegicus	GYG1	RGD	RGD:621785