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FLASH GENE

Symbol

PYGL

contributors: mct - updated : 22-05-2017

HGNC name	phosphorylase, glycogen; liver (Hers disease, glycogen storage disease type VI)
HGNC id	9725

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	GSD6A glycogen storage disease, type VI A
Location	14q22.1      Physical location : 51.371.935 - 51.411.248
Synonym name	Human liver glycogen phosphorylase
Synonym symbol(s)	GSD6, HLGP
EC.number	2.4.1.1

DNA

TYPE	functioning gene
STRUCTURE	39.31 kb     20 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001163940 19 - 2757 NP_001157412 - 813 - 2002 12204691 NM_002863 20 - 2859 NP_002854 - 847 - 2002 12204691

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver       highly Skin/Tegument skin       highly Urinary bladder       highly

cell lineage
cell lines
fluid/secretion	blood

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

homomer , dimer

HOMOLOGY

Homologene

FAMILY

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	phosphorylase, involved in glycogen catabolism
	catalyze the breakdown of glycogen to glucose-1-phosphate for glycolysis
	important allosteric enzyme in carbohydrate metabolism
	catalyzes the breakdown of glycogen to maintain serum glucose levels and is a therapeutic target for diabetes

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

CREB3L3 regulates the rhythmic expression of the genes encoding the rate-limiting enzymes for glycogenolysis and gluconeogenesis, including PYGL, PCK1, and G6PC

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

GSD6A

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	biomarker for thyroid cancer exhibiting differences in the correlation coefficients between benign and malignant samples that indicate its discriminatory power
Therapy target

ANIMAL & CELL MODELS