PANK2 Antibody

說明書

中文名稱：

PANK2兔多克隆抗體
貨號：

CSB-PA017422GA01HU
規(guī)格：

￥3,900
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

Uniprot No.：

Q9BZ23
基因名：

PANK2
別名：

4933409I19Rik antibody; AI642621 antibody; C20orf48 antibody; Hallervorden Spatz syndrome antibody; HARP antibody; hPANK2 antibody; HSS antibody; MGC118448 antibody; MGC15053 antibody; mitochondrial antibody; NBIA1 antibody; PANK2 antibody; PANK2_HUMAN antibody; Pantothenate kinase 2 (Hallervorden Spatz syndrome) antibody; Pantothenate kinase 2 antibody; Pantothenate kinase 2 mitochondrial antibody; Pantothenic acid kinase 2 antibody; PKAN antibody; RP23 387C21.4 antibody
宿主：

Rabbit
反應種屬：

Human,Mouse,Rat
免疫原：

Human PANK2
免疫原種屬：

Homo sapiens (Human)
抗體亞型：

IgG
純化方式：

Antigen Affinity Purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
產品提供形式：

Liquid
應用范圍：

ELISA,WB,IHC
Protocols：

ELISA Protocol
Western Blotting (WB) Protocol
Immunohistochemistry (IHC) Protocol
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

功能：

Catalyzes the phosphorylation of pantothenate to generate 4'-phosphopantothenate in the first and rate-determining step of coenzyme A (CoA) synthesis. Required for angiogenic activity of umbilical vein of endothelial cells (HUVEC).; Catalyzes the phosphorylation of pantothenate to generate 4'-phosphopantothenate in the first and rate-determining step of coenzyme A (CoA) synthesis.
基因功能參考文獻：
1. We found c.966 G>T (p.Glu322Asp) mutation in the PANK2 gene mutation analysis in the individuals from the brain imaging findings. Although individuals in this family who had a homozygous mutation in PANK2 gene analyses had the 'eye-of-the-tiger' sign and atypical disease, they were noted to have differing clinical findings. PMID: 30226968
2. Results from a study on gene expression variability markers in early-stage human embryos shows that PANK2 is a putative expression variability marker for the 3-day, 8-cell embryo stage. PMID: 26288249
3. The key finding of the study encompassed the detection of a novel PANK2 gene mutation in a child of Chinese ethnicity with PKAN. The PANK2 gene c.A650G, as well as c.T1341G, mutations may be potential mutation hotspots in children with PKAN in Mainland China. PMID: 29642163
4. PANK2 mutations have an effect on iPSC-derived cortical neuronal cells in culture PMID: 28863176
5. These findings provide direct evidence that PANK2 malfunctioning is responsible for abnormal phenotypes in human neuronal cells of pantothenate kinase-associated neurodegeneration patients. PMID: 27516453
6. A deleterious homozygous four-nucleotide deletion causing frameshift deletion in PANK2 gene (c.1426_1429delATGA, p.M476 fs) was identified in an 8 years old girl with dystonia, bone fracture, muscle rigidity, abnormal movement, lack of coordination and chorea. PMID: 28821231
7. Results show that overexpression of PANK2 results in substantial elevated level of Co-A in skeletal muscle in transgenic mice which displays reduced skeletal muscle mass and significantly impaired exercise tolerance and grip strength. PMID: 28189602
8. Homozygous PANK2 mutations in 22 PKAN patients from 13 Turkish families. PMID: 28113101
9. We aim to present a case of a healthy infant born after intracytoplasmic sperm injection-in vitro fertilization (ICSI-IVF) with a preimplantation genetic diagnosis (PGD) for pantothenate kinase-associated neurodegeneration (PKAN) due to PANK2 mutation PMID: 27815806
10. Tissue or cellular hypoxic/ischemic injury within the globus pallidus may underlie the pathogenesis of pantothenate kinase-associated neurodegeneration due to PANK2 mutations and apoE aggregates. PMID: 26547561
11. Mutations in PANK2 and CoASY lead, respectively, to PKAN and CoPAN forms of Neurodegeneration with brain iron accumulation . Mutations in PLA2G6 lead to PLAN. Mutations in C19orf12 lead to MPAN PMID: 25668476
12. Data suggests that the c.680 A>G mutation in the PANK2 gene alone is not sufficient to determine acanthocytic shape transformation in erythrocytes but some additional factor(s)/condition(s) are necessary for acanthocytosis to occur. PMID: 25915509
13. Novel PANK2 gene mutations and clinical features in patients with pantothenate kinase-associated neurodegeneration. PMID: 24689511
14. study presents 2 siblings who were homozygous for a novel c.695A>G (p.Asp232Gly) missense mutation in exon 2 of PANK2 gene; index patient presented with a 5-year history of slowly progressive gait disturbance, dysarthria, mild axial rigidity and bradykinesia PMID: 24655737
15. Caucasian patients have more complex presentations than Asians. Exon 3 and 4 are hot spots for screening PANK2 mutations in Asian patients. PMID: 24348190
16. we describe the clinical, radiological, and molecular find-ings of a classic PKAN patient of Iranian descent with a novel frameshift mutation in the coding region of the PANK2 gene PMID: 23116688
17. Identification of novel compound heterozygous mutations in PANK2 gene in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration. PMID: 22930366
18. Mutations in both PANK2 and C19orf12 contributed significantly to neurodegeneration with brain iron accumulation in the Iranian patients PMID: 23166001
19. Skin fibroblasts from pantothenate kinase-associated neurodegeneration patients highlight a possible molecular relationship between Pank2 deficiency and iron misregulation. PMID: 22692681
20. The c.1319G>C (p.R440P) mutation appears to be a founder genotype among Korean patients with Pantothenate kinase-associated neurodegeneration. PMID: 22103354
21. study used global metabolic profiling to explore the metabolic consequences of mutations in pantothenate kinase 2 that are responsible for Pantothenate Kinase-Associated Neurodegeneration PMID: 22221393
22. This study identified that new mutation of Pantothenate kinase associated with neurodegeneration. PMID: 21442655
23. PANK2 mutations are not invariably associated with the "eye-of-the-tiger sign (early onset generalised dystonia and basal ganglia abnormalities) PMID: 20551478
24. Progressive delayed-onset postanoxic dystonia - First example of PKAN symptom onset possibly provoked by environmental trigger (anoxia) PMID: 20925075
25. the patient reported here shows a peculiar PKAN clinical phenotype probably based on new mutations identified in the PANK2 gene PMID: 20721927
26. findings validate expression of the short PANK2 isoform and enable predictions about potentially deleterious sequence variants in the regulatory region of this human disease gene PMID: 20603201
27. two Japanese siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration who were found to have a novel PANK2 mutation PMID: 20006850
28. Missense mutaions in PANK2 gene were observed in two siblings with Hallervorden- Spatz syndrome PMID: 14639680
29. The presence of mutation in the PANK2 gene is associated with younger age at onset and a higher frequency of dystonia, dysarthria, intellectual impairment, and gait disturbance. Parkinsonism is seen predominantly in adult-onset patients PMID: 14743358
30. Adult-onset focal dystonia was the presenting sign of pantothenate kinase-associated neurodegeneration (PKAN) in a patient with a novel homozygous missense mutation (C856T) PMID: 15390030
31. Direct sequencing of the neurodegeneration patient's genomic DNA revealed homozygous base substitutions in the pantothenate kinase gene (PANK2): the A764-->G substitution (N245S) due to consanguinity of her parents. PMID: 15465096
32. These results suggest that neurodegeneration with brain iron accumulation (NBIA; formerly Hallervorden-Spatz disease) is caused by altered neuronal mitochondrial lipid metabolism caused by mutations disrupting PanK2 protein levels and catalytic activity. PMID: 15659606
33. Novel compound heterozygous mutations (Asp268Gly and Ile391Asn) in the PANK2 gene in a Chinese patient with Hallervorden-Spatz Syndrome PMID: 15747360
34. PANK2 gene mutations can cause Hallervorden-Spatz syndrome in Chinese patients. PMID: 15793782
35. The authors report clinical and genetic findings of 16 patients with PKAN. The authors identified 12 mutations in the PANK2 gene, five of which were new. PMID: 15911822
36. The 1142_1144delGAG mutation of PANK2 probably originated from one common ancestor at the beginning of the ninth century, approximately 38 generations ago PMID: 16240131
37. Unique biochemical features of the PanK2 isoforms suggest that catalytic defects may not be the sole cause for the neurodegenerative phenotype. PMID: 16272150
38. We demonstrate that the G521R mutation results in an unstable and inactive protein in tremor-predominant neurodegeneration. PMID: 16450344
39. PANK2 mutations are not associated with some adult degenerative conditions PMID: 16962235
40. PanK2 is located in the mitochondria to sense the levels of palmitoylcarnitine and up-regulate CoA biosynthesis in response to an increased mitochondrial demand for the cofactor to support beta-oxidation PMID: 17242360
41. expression of PanK2 was higher in human brain compared to mouse brain PMID: 17825826
42. Pantothenate kinase-associated neurodegeneration is an autosomal-recessive disorder associated with the accumulation of iron in the basal ganglia associated with mutations in the PANK2 gene. PMID: 17903678
43. Two novel PANK2 gene mutation in Pantothenate Kinase-Associated Neurodegeneration. PMID: 18006953
44. Focal hand dystonia showed atypical phenotype of PANK2 gene mutations. PMID: 18074375
45. a novel missense mutation (P354L) in exon 4 of the PANK2 gene in an adolescent with classic pantothenate kinase-associated neurodegeneration was identified PMID: 18239249
46. In this report identified a novel mutation( in the PANK29p.D378G and p.D452G )gene responsible for PKAN and confirmed that PKAN has a board spectrum of phenotype, even among siblings with same mutations. PMID: 19224615
47. Identified two alternatively used first exons resulting in distinct isoforms, one of which carries an N-terminal extension with a predicted mitochondrial targeting signal. PMID: 12554685
48. An unconventional translational start codon, CUG, which is polymorphic in the general population is proposed. PANK2 is predicted to localize to mitochondria, with a 29 amino acid mitochondrial targeting sequence identified. PMID: 15105273
49. Demonstrated that the mitochondrial isoform is sequentially cleaved at two sites by the mitochondrial processing peptidase, generating a long-lived 48 kDa mature protein localized to mitochondria of neurons in human brain. PMID: 15659606
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相關疾?。?/div>
Neurodegeneration with brain iron accumulation 1 (NBIA1); Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP)
亞細胞定位：

[Isoform 1]: Mitochondrion. Mitochondrion intermembrane space. Nucleus.; [Isoform 2]: Cytoplasm.; [Isoform 3]: Cytoplasm.; [Isoform 4]: Cytoplasm.
蛋白家族：

Type II pantothenate kinase family
組織特異性：

Expressed in the brain (at protein level). Ubiquitous. Highly expressed in the testis. Expressed in the umbilical vein endothelial cells (HUVEC).
數據庫鏈接：

HGNC: 15894

OMIM: 234200

KEGG: hsa:80025

STRING: 9606.ENSP00000313377

UniGene: Hs.114180

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