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Mouse Anti-PANK2 Recombinant Antibody (3G4) (CBMAB-P0725-YC)

Provided herein is a Mouse monoclonal antibody against Human Pantothenate Kinase 2. The antibody can be used for immunoassay techniques, such as FC, ICC, IF, WB.
See all PANK2 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
3G4
Antibody Isotype
IgG1
Application
FC, ICC, IF, WB

Basic Information

Immunogen
Full length human recombinant protein of human PANK2 (NP_705902) produced in HEK293T cell
Specificity
Human
Antibody Isotype
IgG1
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
PBS, pH 7.3, containing 1% BSA, 50% glycerol and 0.02% sodium azide
Storage
Store at 4°C short term (1-2 weeks). Aliquot and store at-20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
pantothenate kinase 2
Introduction
PANK2 is a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by acyl CoA species. Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms.
Entrez Gene ID
80025
UniProt ID
Q9BZ23
Alternative Names
Pantothenate Kinase 2; Hallervorden-Spatz Syndrome; Pantothenic Acid Kinase 2; EC 2.7.1.33; C20orf48; Neurodegeneration With Brain Iron Accumulation 1 (Hallervorden-Spatz Syndrome); Pantothenate Kinase 2, Mitochondrial;
Function
Isoform 1
Mitochondrial isoform that catalyzes the phosphorylation of pantothenate to generate 4'-phosphopantothenate in the first and rate-determining step of coenzyme A (CoA) synthesis (PubMed:15659606, PubMed:17825826, PubMed:17242360, PubMed:16272150).
Required for angiogenic activity of umbilical vein of endothelial cells (HUVEC) (PubMed:30221726).
Isoform 4
Cytoplasmic isoform that catalyzes the phosphorylation of pantothenate to generate 4'-phosphopantothenate in the first and rate-determining step of coenzyme A (CoA) synthesis.
Biological Process
Aerobic respirationIEA:Ensembl
AngiogenesisManual Assertion Based On ExperimentIMP:UniProtKB
Coenzyme A biosynthetic processManual Assertion Based On ExperimentIBA:GO_Central
Mitochondrion morphogenesisIEA:Ensembl
Pantothenate metabolic process1 PublicationNAS:ParkinsonsUK-UCL
Phosphorylation1 PublicationNAS:ParkinsonsUK-UCL
Regulation of bile acid metabolic processManual Assertion Based On ExperimentIMP:ParkinsonsUK-UCL
Regulation of fatty acid metabolic processManual Assertion Based On ExperimentIMP:ParkinsonsUK-UCL
Regulation of mitochondrial membrane potentialIEA:Ensembl
Regulation of triglyceride metabolic processManual Assertion Based On ExperimentIMP:ParkinsonsUK-UCL
Spermatid developmentIEA:Ensembl
Cellular Location
Isoform 1
Mitochondrion
Mitochondrion intermembrane space
Nucleus
Localizes predominantly to the mitochondria and to a lesser extent to the nucleus. Found in both the mitochondria and the nucleus throughout the cell cycle, with the exception of the G2/M phase when it is restricted to mitochdondria.
Isoform 2
Cytoplasm
Isoform 3
Cytoplasm
Isoform 4
Cytoplasm
Involvement in disease
Neurodegeneration with brain iron accumulation 1 (NBIA1):
Autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. Clinical manifestations include progressive muscle spasticity, hyperreflexia, muscle rigidity, dystonia, dysarthria, and intellectual deterioration which progresses to severe dementia over several years. It is clinically classified into classic, atypical, and intermediate phenotypes. Classic forms present with onset in first decade, rapid progression, loss of independent ambulation within 15 years. Atypical forms have onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later. Intermediate forms manifest onset in first decade with slow progression or onset in second decade with rapid progression. Patients with early onset tend to also develop pigmentary retinopathy, whereas those with later onset tend to also have speech disorders and psychiatric features. All patients have the 'eye of the tiger' sign on brain MRI.
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP):
Rare syndrome with many clinical similarities to PKAN.
PTM
Synthesized as a 62-kDa precursor which is proteolytically processed by the mitochondrial-processing peptidase (MPP) via a 59-kDa intermediate to yield the mature mitochondrial 48-kDa subunit.

Tao, Y., Zhao, C., Han, D., Wei, Y., Wang, L., Song, W., & Li, X. (2023). Typical pantothenate kinase-associated neurodegeneration caused by compound heterozygous mutations in PANK2 gene in a Chinese patient: A case report and literature review. Frontiers in Neurology, 14, 1170557.

Talaverón-Rey, M., Álvarez-Córdoba, M., Villalón-García, I., Povea-Cabello, S., Suárez-Rivero, J. M., Gómez-Fernández, D., ... & Sánchez-Alcázar, J. A. (2023). Alpha-lipoic acid supplementation corrects pathological alterations in cellular models of pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels. Orphanet journal of rare diseases, 18(1), 80.

Santambrogio, P., Cozzi, A., Di Meo, I., Cavestro, C., Vergara, C., Rodríguez-Pascau, L., ... & Levi, S. (2023). PPAR Gamma Agonist Leriglitazone Recovers Alterations Due to Pank2-Deficiency in HiPS-Derived Astrocytes. Pharmaceutics, 15(1), 202.

Li, W. B., Shen, N. X., Zhang, C., Xie, H. C., Li, Z. Y., Cao, L., ... & Song, X. W. (2022). Novel PANK2 mutations in patients with pantothenate kinase-associated neurodegeneration and the genotype–phenotype correlation. Frontiers in Aging Neuroscience, 14, 848919.

Yang, F., Wang, J., Yang, Z., Ren, Z., & Zeng, F. (2022). PANK2 p. A170fs： a novel pathogenetic mutation, compound with PANK2 p. R440P, causing pantothenate kinase Associated neurodegeneration in a Chinese family. International Journal of Neuroscience, 132(6), 582-588.

Álvarez-Córdoba, M., Reche-López, D., Cilleros-Holgado, P., Talaverón-Rey, M., Villalón-García, I., Povea-Cabello, S., ... & Sánchez-Alcázar, J. A. (2022). Therapeutic approach with commercial supplements for pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels. Orphanet journal of rare diseases, 17(1), 311.

Mignani, L., Zizioli, D., Khatri, D., Facchinello, N., Schiavone, M., De Palma, G., & Finazzi, D. (2022). Bi-Allelic Mutations in Zebrafish pank2 Gene Lead to Testicular Atrophy and Perturbed Behavior without Signs of Neurodegeneration. International Journal of Molecular Sciences, 23(21), 12914.

Pan, S., & Zhu, C. (2020). Atypical pantothenate kinase-associated neurodegeneration with PANK2 mutations: clinical description and a review of the literature. Neurocase, 26(3), 175-182.

Werning, M., Müllner, E. W., Mlynek, G., Dobretzberger, V., Djinovic‐Carugo, K., Baron, D. M., ... & Salzer, U. (2020). PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes. Annals of Clinical and Translational Neurology, 7(8), 1340-1351.

Zhang, Y., Zhou, D., & Yang, T. (2019). Novel PANK2 mutation in a Chinese boy with PANK2-associated neurodegeneration: a case report and review of Chinese cases. Medicine, 98(4), e14122.

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

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