PHKA2 Antibody (F-1): sc-393491

PHKA2 Antibody (F-1) is a mouse monoclonal IgG1 kappa light chain antibody that detects PHKA2 protein of human origin by western blotting (WB), immunoprecipitation (IP), immunofluorescence (IF), and enzyme-linked immunosorbent assay (ELISA). PHKA2 (F-1) antibody is available in both non-conjugated and various conjugated forms, including agarose, horseradish peroxidase (HRP), phycoerythrin (PE), fluorescein isothiocyanate (FITC), and multiple Alexa Fluor® conjugates. PHKA2 protein, also known as phosphorylase kinase, alpha 2, is a 1,235 amino acid lipid-anchored protein located on the cytoplasmic side of the cell membrane, primarily expressed in the liver but also found in other non-muscle tissues. PHKA2 plays a crucial role in glycogen metabolism as a component of a multi-chain polymer that functions as a phosphorylase β kinase, catalyzing the phosphorylation of key substrates such as Troponin I. Proper functioning of PHKA2 is vital for maintaining normal glycogen levels in tissues; defects in the gene encoding PHKA2 can lead to glycogen storage disease type 9A (GSD9A), a metabolic disorder characterized by abnormal glycogen accumulation, hepatomegaly, growth retardation, muscle weakness, and dyslipidemia. PHKA2 (F-1) monoclonal antibody provides researchers with a valuable tool for studying the implications of PHKA2 in glycogen metabolism and related disorders.

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PHKA2 Antibody (F-1) References:

1. Glucoamylase-like domains in the alpha- and beta-subunits of phosphorylase kinase.  |  Pallen, MJ. 2003. Protein Sci. 12: 1804-7. PMID: 12876330
2. Regional mapping of a liver alpha-subunit gene of phosphorylase kinase (PHKA) to the distal region of human chromosome Xp.  |  Wauters, JG., et al. 1992. Cytogenet Cell Genet. 60: 194-6. PMID: 1505214
3. Identification of Alu-mediated, large deletion-spanning introns 19-26 in PHKA2 in a patient with X-linked liver glycogenosis (hepatic phosphorylase kinase deficiency).  |  Fukao, T., et al. 2007. Mol Genet Metab. 92: 179-82. PMID: 17581768
4. Families with X-linked liver glycogenosis due to phosphorylase kinase deficiency.  |  Willems, P. 1990. Clin Genet. 38: 80. PMID: 2387090
5. Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).  |  Kishnani, PS., et al. 2019. Genet Med. 21: 772-789. PMID: 30659246
6. A novel PHKA2 mutation in a Chinese child with glycogen storage disease type IXa: a case report and literature review.  |  Fu, J., et al. 2019. BMC Med Genet. 20: 56. PMID: 30925902
7. PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only.  |  Benner, A., et al. 2021. Am J Med Genet A. 185: 2959-2975. PMID: 34117828
8. Isolation of cDNA encoding the human liver phosphorylase kinase alpha subunit (PHKA2) and identification of a missense mutation of the PHKA2 gene in a family with liver phosphorylase kinase deficiency.  |  Hirono, H., et al. 1995. Biochem Mol Biol Int. 36: 505-11. PMID: 7549948
9. Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease.  |  Hendrickx, J., et al. 1995. Hum Mol Genet. 4: 77-83. PMID: 7711737
10. X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase.  |  Hendrickx, J., et al. 1996. Hum Mol Genet. 5: 649-52. PMID: 8733133
11. Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2).  |  Burwinkel, B., et al. 1996. Hum Mol Genet. 5: 653-8. PMID: 8733134
12. Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene.  |  Burwinkel, B., et al. 1998. Hum Genet. 102: 423-9. PMID: 9600238

Monoclonal antibodies for mammalian and non-mammalian protein targets represent essentially all targets covered by polyclonal antibodies. Over 8,300 of our antibodies are offered as ImmunoCruz^® conjugates which eliminates the need for a secondary antibody.

Santa Cruz Biotechnology antibodies have over 360,000 research citations. Anti-PHKA2 Antibody (F-1) has 0 citations in a variety of scientific publications.

Primary antibodies like Anti-PHKA2 Antibody (F-1) for mammalian target proteins are recommended for the detection of a range of mammalian species, primarily of mouse, rat and human species. Many mammalian antibodies are also ideal for veterinary research and reactive with ovine, porcine, caprine, feline, canine, bovine and equine protein targets. Santa Cruz Biotechnology primary monoclonal antibodies are suitable for laboratory research applications and are not intended for diagnostic or therapeutic use.

PHKA2 Antibody (F-1) Specifications

Alternate Product Name: PHKA2

Product Clone Name: F-1

Classification: Primary Antibody

Clonality: Monoclonal Antibody

Antibody Isotype: IgG₁ kappa light chain

Amino Acids: 608-778

Epitope Target: PHKA2

Epitope Species: human

Product Reactivity/Detection: PHKA2

Species Reactivity/Detection: human

Additional Mammalian Reactivity: N/A

Additional Non-Mammalian Reactivity: N/A

Applications: WB, IP, IF, ELISA

Vialing Information: Each vial contains 200 µg IgG₁ kappa light chain in 1.0 ml of PBS with < 0.1% sodium azide and 0.1% gelatin

Research Citations: 0 citations in various scientific publications

Available Conjugates/Forms for PHKA2 Antibody (F-1): AC: Agarose, AF488: Alexa Fluor^® 488, AF546: Alexa Fluor^® 546, AF594: Alexa Fluor^® 594, AF647: Alexa Fluor^® 647, AF680: Alexa Fluor^® 680, AF790: Alexa Fluor^® 790, FITC: Fluoroscein, HRP: Horseradish Peroxidase, PE: Phycoerythrin