PHKA2

PHKA2
Identifiers
Aliases	PHKA2, GSD9A, PHK, PYK, PYKL, XLG, XLG2, phosphorylase kinase regulatory subunit alpha 2
External IDs	OMIM: 300798; MGI: 97577; HomoloGene: 246; GeneCards: PHKA2; OMA:PHKA2 - orthologs
Gene location (Human)
Chr.	X chromosome (human)
End	18,984,114 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	159,381,874 bp
RNA expression pattern
	Top expressed in
	right lobe of liver; ; right uterine tube; ; apex of heart; ; left ovary; ; body of pancreas; ; pituitary gland; ; anterior pituitary; ; right ovary; ; left lobe of thyroid gland; ; right lobe of thyroid gland;
	Top expressed in
	brown adipose tissue; ; tail of embryo; ; subcutaneous adipose tissue; ; white adipose tissue; ; genital tubercle; ; right ventricle; ; stroma of bone marrow; ; tunica adventitia of aorta; ; tibiofemoral joint; ; internal carotid artery;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	catalytic activity; calmodulin binding; phosphorylase kinase activity; protein binding;
Cellular component	cytosol; plasma membrane; membrane; phosphorylase kinase complex;
Biological process	glycogen metabolic process; protein phosphorylation; generation of precursor metabolites and energy; carbohydrate metabolic process; glycogen catabolic process;
	Sources:Amigo / QuickGO
Orthologs
	5256
	110094
	ENSG00000044446
	ENSMUSG00000031295
	P46019
	Q8BWJ3
	NM_000292
	NM_001177878; NM_001177879; NM_172783; NM_001358966; NM_001358968
	NP_000283
	NP_001171349; NP_001171350; NP_766371; NP_001345895; NP_001345897
	Wikidata
View/Edit Human	View/Edit Mouse

Phosphorylase b kinase regulatory subunit alpha, liver isoform is an enzyme that in humans is encoded by the PHKA2 gene.^[5]^[6]

Template:PBB Summary

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000044446 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000031295 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Willems P (Sep 1990). "Families with X-linked liver glycogenosis due to phosphorylase kinase deficiency". Clin Genet. 38 (1): 80. doi:10.1111/j.1399-0004.1990.tb03552.x. PMID 2387090.
^ "Entrez Gene: PHKA2 phosphorylase kinase, alpha 2 (liver)".

External links

GeneReviews/NCBI/NIH/UW entry on Phosphorylase Kinase Deficiency, Glycogen Storage Disease Type IX

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This article on a gene on the human X chromosome and/or its associated protein is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000044446 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000031295 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid2387090-5] Willems P (Sep 1990). "Families with X-linked liver glycogenosis due to phosphorylase kinase deficiency". Clin Genet. 38 (1): 80. doi:10.1111/j.1399-0004.1990.tb03552.x. PMID 2387090.

[entrez-6] "Entrez Gene: PHKA2 phosphorylase kinase, alpha 2 (liver)".

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v t e Enzymes
Activity	Active site Binding site Catalytic triad Oxyanion hole Enzyme promiscuity Diffusion-limited enzyme Cofactor Enzyme catalysis
Regulation	Allosteric regulation Cooperativity Enzyme inhibitor Enzyme activator
Classification	EC number Enzyme superfamily Enzyme family List of enzymes
Kinetics	Enzyme kinetics Eadie–Hofstee diagram Hanes–Woolf plot Lineweaver–Burk plot Michaelis–Menten kinetics
Types	EC1 Oxidoreductases (list) EC2 Transferases (list) EC3 Hydrolases (list) EC4 Lyases (list) EC5 Isomerases (list) EC6 Ligases (list) EC7 Translocases (list)

References

Further reading

External links