Mouse Anti-AMPD2 Recombinant Antibody (2F5) (CBMAB-A2564-YC)

Name: Mouse Anti-AMPD2 Recombinant Antibody (2F5)
SKU: CBMAB-A2564-YC
Rating: 5 (1 reviews)

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Datasheet

SDS

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Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Host Animal

Mouse

Clone

2F5

Application

ELISA, WB

Immunogen

AMPD2 (NP_631895, 86-185 aa) partial recombinant protein with GST tag.

Host Species

Mouse

Specificity

Human

Antibody Isotype

IgG1, κ

Clonality

Monoclonal

Application Notes

The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format

Liquid

Buffer

PBS, pH 7.4

Preservative

None

Concentration

Batch dependent

Storage

Store at 4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Epitope

aa 86-185

More Infomation

Target

Full Name

adenosine monophosphate deaminase 2 (isoform L)

Introduction

AMPD2 is important in purine metabolism by converting AMP to IMP. The encoded protein, which acts as a homotetramer, is one of three AMP deaminases found in mammals.

Entrez Gene ID

271

UniProt ID

Q01433

Alternative Names

Adenosine Monophosphate Deaminase 2; Adenosine Monophosphate Deaminase 2 (Isoform L); EC 3.5.4.6; AMP Deaminase Isoform L; AMP Deaminase 2; AMPD Isoform L; SPG63; AMPD; PCH9;

Function

AMP deaminase plays a critical role in energy metabolism. Catalyzes the deamination of AMP to IMP and plays an important role in the purine nucleotide cycle.

Biological Process

AMP metabolic process Source: GO_Central
Cyclic purine nucleotide metabolic process Source: UniProtKB
Energy homeostasis Source: MGI
IMP biosynthetic process Source: MGI
IMP salvage Source: UniProtKB-UniPathway
Purine-containing compound salvage Source: Reactome

Cellular Location

Cytosol

Involvement in disease

Pontocerebellar hypoplasia 9 (PCH9): A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH9 features include severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy, thin corpus callosum, and delayed myelination.
Spastic paraplegia 63, autosomal recessive (SPG63): A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.

PTM

Methylated at Gln-6 by N6AMT1.

Abnous, K., & Storey, K. B. (2021). 5′-Adenosine monophosphate deaminase regulation in ground squirrels during hibernation. Comparative Biochemistry and Physiology Part B: Biochemistry and Molecular Biology, 253, 110543.

Orth, M. F., Gerke, J. S., Knösel, T., Altendorf‐Hofmann, A., Musa, J., Alba‐Rubio, R., ... & Grünewald, T. G. (2019). Functional genomics identifies AMPD2 as a new prognostic marker for undifferentiated pleomorphic sarcoma. International journal of cancer, 144(4), 859-867.

Scola, E., Ganau, M., Robinson, R., Cleary, M., De Cocker, L. J., Mankad, K., ... & D’Arco, F. (2019). Neuroradiological findings in three cases of pontocerebellar hypoplasia type 9 due to AMPD2 mutation: typical MRI appearances and pearls for differential diagnosis. Quantitative imaging in medicine and surgery, 9(12), 1966.

Wang, H., & Ye, S. (2019). 301 NovelmiRNA-25 inhibits AMPD2 in peripheral blood mononuclear cells of patients with systemic lupus erythematosus and represents a promising novel biomarker.

Kortüm, F., Abou Jamra, R., Alawi, M., Berry, S. A., Borck, G., Helbig, K. L., ... & Kutsche, K. (2018). Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9. European journal of human genetics, 26(5), 695-708.

Severino, M., Zara, F., Rossi, A., & Striano, P. (2017). Teaching NeuroImages: figure of 8: the clue to the diagnosis of AMPD2 pontocerebellar hypoplasia (PCH9). Neurology, 89(14), e172-e173.

Marsh, A. P., Yap, P., Tan, T., Pope, K., White, S. M., Chong, B., ... & Lockhart, P. J. (2017). A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9. Am J Med Genet A, 173, 820-823.

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Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme-Linked Immunospot (ELISpot)
Proteogenomics
Other Protocols

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For research use only. Not intended for any clinical use.

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