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Mouse Anti-NHLRC2 Recombinant Antibody (CBWJN-0991) (CBMAB-N0364-WJ)

This product is a Mouse antibody that recognizes NHLRC2. The antibody CBWJN-0991 can be used for immunoassay techniques such as: WB, IHC-P, P-ELISA.
See all NHLRC2 antibodies

Summary

Host Animal
Mouse
Specificity
Human, Rat
Clone
CBWJN-0991
Antibody Isotype
IgG
Application
WB, IHC-P, P-ELISA

Basic Information

Specificity
Human, Rat
Antibody Isotype
IgG
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
10mM PBS, pH 7.4, 10 mg/ml BSA, 25% glycerol
Preservative
0.03% Proclin 300
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
NHL Repeat Containing 2
Introduction
NHLRC2 (NHL Repeat Containing 2) is a Protein Coding gene. Among its related pathways are Response to elevated platelet cytosolic Ca2+.
Entrez Gene ID
Human374354
Rat307986
UniProt ID
HumanQ8NBF2
RatD3ZLM5
Alternative Names
NHL Repeat Containing 2; Novel NHL Repeat Domain Containing Protein; NHL Repeat-Containing Protein 2; 1200003G01Rik;
Function
Required for normal embryonic development.
Cellular Location
Cytoplasm, cytosol
Involvement in disease
Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA):
An autosomal recessive, early-onset and fatal disorder clinically characterized by progressive cerebropulmonary symptoms, malabsorption, progressive growth failure, recurrent infections, chronic hemolytic anemia and transient liver dysfunction. Death occurs in the first years of life due to respiratory failure. Post-mortem neuropathological examination reveals increased angiomatosis-like leptomeningeal, cortical and superficial white matter vascularisation and congestion, vacuolar degeneration and myelin loss in white matter, as well as neuronal degeneration. Interstitial fibrosis and granuloma-like lesions are observed in the lungs. Hepatomegaly, steatosis and collagen accumulation are detected in the liver.

Sczakiel, H. L., Zhao, M., Wollert-Wulf, B., Danyel, M., Ehmke, N., Stoltenburg, C., ... & Boschann, F. (2023). Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals. European Journal of Human Genetics, 1-13.

Kreus, M. A., Lehtonen, S. T., Mäkinen, J. M., Lappi-Blanco, H. E., Laitakari, K. E., Johnson, S. A., ... & Kaarteenaho, R. L. (2023). High NHLRC2 expression is associated with shortened survival in lung adenocarcinoma. Translational Lung Cancer Research, 12(6), 1221.

Tallgren, A., Kager, L., O’Grady, G., Tuominen, H., Körkkö, J., Kuismin, O., ... & Uusimaa, J. (2023). Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease. Frontiers in Neuroscience, 17, 1123327.

Kreus, M. (2023). NHLRC2 and extracellular matrix proteins in idiopathic pulmonary fibrosis and lung cancer.

Hiltunen, A. E., Vuolteenaho, R., Ronkainen, V. P., Miinalainen, I., Uusimaa, J., Lehtonen, S., & Hinttala, R. (2022). Nhlrc2 is crucial during mouse gastrulation. genesis, 60(3), e23470.

Kreus, M., Lehtonen, S., Hinttala, R., Salonen, J., Porvari, K., & Kaarteenaho, R. (2022). NHLRC2 expression is increased in idiopathic pulmonary fibrosis. Respiratory Research, 23(1), 206.

Li, Y., Zhang, Y., Jiang, G., Wang, Y., He, C., Zhao, X., ... & Li, L. (2022). Case report: novel mutations of NDUFS6 and NHLRC2 genes potentially cause the quick postnatal death of a Chinese Hani minority neonate with mitochondrial complex I deficiency and FINCA syndrome. Medicine, 101(27).

Boschann, F., Sczakiel, H., Zhao, M., Danyel, M., Stoltenburg, C., Damseh, N., ... & Horn, D. (2022). FINCA syndrome beyond pulmonary affection: biallelic NHLRC2 variants in eight families with intellectual disability and epilepsy.

Hiltunen, A. E., Kangas, S. M., Ohlmeier, S., Pietilä, I., Hiltunen, J., Tanila, H., ... & Hinttala, R. (2020). Variant in NHLRC2 leads to increased hnRNP C2 in developing neurons and the hippocampus of a mouse model of FINCA disease. Molecular Medicine, 26(1), 1-16.

Brodsky, N. N., Boyarchuk, O., Kovalchuk, T., Hariyan, T., Rice, A., Ji, W., ... & Lucas, C. L. (2020). Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome. Journal of Human Genetics, 65(10), 911-915.

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

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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