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FLASH GENE

Symbol

PHKB

contributors: mlc - updated : 25-02-2006

HGNC name	phosphorylase kinase, beta
HGNC id	8927

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	GSD8B glycogen storage disease, type VIIIb GSD9B glycogen storage disease, type IX B
Location	16q12.1      Physical location : 47.495.209 - 47.735.433
Synonym symbol(s)	FLJ41698
EC.number	2.7.1.38

DNA

TYPE	functioning gene
STRUCTURE	239.00 kb     32 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 - - 4284 - 1093 - Pallen (2003) variant 2 - - 3821 - 1086 - Pallen (2003)

EXPRESSION

Type	ubiquitous

constitutive of

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 Lymphoid/Immune thymus       highly Reproductive male system testis     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular,cytoplasm,organelle,lysosome

basic FUNCTION	involved in glycogen catabolism
	catalyzing the phosphorylation of serine in certain substrates, including troponin I

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

activated by

thyroid hormones

ASSOCIATED DISORDERS

corresponding disease(s)

GSD8B , GSD9B

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS