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

Name: Mouse Anti-NHLRC2 Recombinant Antibody (CBWJN-0991)
SKU: CBMAB-N0364-WJ
Rating: 5 (1 reviews)

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Datasheet

SDS

Request for COA

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

Basic Information

Host Animal

Mouse

Clone

CBWJN-0991

Application

WB, IHC-P, P-ELISA

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.

More Infomation

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

Human	374354
Rat	307986

UniProt ID

Human	Q8NBF2
Rat	D3ZLM5

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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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)
Proteogenomic
Other Protocols

Isotype control

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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