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Mouse Anti-NSDHL Recombinant Antibody (6E3) (CBMAB-N3653-WJ)

This product is a Mouse antibody that recognizes NSDHL. The antibody 6E3 can be used for immunoassay techniques such as: ELISA, WB.
See all NSDHL antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
6E3
Antibody Isotype
IgG2a, κ
Application
ELISA, WB

Basic Information

Specificity
Human
Antibody Isotype
IgG2a, 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 7.2
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
NAD(P) dependent steroid dehydrogenase-like
Introduction
The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008]
Entrez Gene ID
50814
UniProt ID
Q15738
Alternative Names
NAD(P) Dependent Steroid Dehydrogenase-Like; Short Chain Dehydrogenase/Reductase Family 31E, Member 1; Protein H105e3; EC 1.1.1.170; H105E3; Sterol-4-Alpha-Carboxylate 3-Dehydrogenase, Decarboxylating; SDR31E1; XAP104;
Function
Catalyzes the NAD(P)+-dependent oxidative decarboxylation of the C4 methyl groups of 4-alpha-carboxysterols in post-squalene cholesterol biosynthesis (By similarity).
Plays also a role in the regulation of the endocytic trafficking of EGFR (By similarity).
Biological Process
Cholesterol biosynthetic processTAS:Reactome
Cholesterol metabolic processManual Assertion Based On ExperimentIBA:GO_Central
Hair follicle developmentIEA:Ensembl
Labyrinthine layer blood vessel developmentIEA:Ensembl
Smoothened signaling pathwayIEA:Ensembl
Cellular Location
Endoplasmic reticulum membrane
Lipid droplet
Trafficking through the Golgi is necessary for ER membrane localization.
Involvement in disease
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD):
An X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, which typically results in male lethality. Clinically, it is characterized by congenital, unilateral, ichthyosisform erythroderma with striking lateralization, sharp midline demarcation, and ipsilateral limb defects and hypoplasia of the body. Limbs defects range from hypoplasia of digits or ribs to complete amelia, often including scoliosis.
CK syndrome (CKS):
An X-linked recessive disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus.
Topology
Helical: 298-318

Zhuang, J., Luo, Q., Xie, M., Chen, Y. E., Jiang, Y., Zeng, S., ... & Chen, C. (2023). Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole‐exome sequencing: A rare case report and literature review. Molecular Genetics & Genomic Medicine, 11(3), e2121.

Xie, L., Liu, M., Cai, M., Huang, W., Guo, Y., Liang, L., ... & Zhu, K. (2023). Regorafenib enhances anti-tumor efficacy of immune checkpoint inhibitor by regulating IFN-γ/NSDHL/SREBP1/TGF-β1 axis in hepatocellular carcinoma. Biomedicine & Pharmacotherapy, 159, 114254.

Kang, W., Yang, Y., Chen, C., & Yu, C. (2022). CPSF1 positively regulates NSDHL by alternative polyadenylation and promotes gastric cancer progression. American Journal of Cancer Research, 12(10), 4566.

Chen, M., Zhao, Y., Yang, X., Zhao, Y., Liu, Q., Liu, Y., ... & Jin, W. (2021). NSDHL promotes triple-negative breast cancer metastasis through the TGFβ signaling pathway and cholesterol biosynthesis. Breast Cancer Research and Treatment, 187, 349-362.

Kim, D. G., Cho, S., Lee, K. Y., Cheon, S. H., Yoon, H. J., Lee, J. Y., ... & Lee, B. J. (2021). Crystal structures of human NSDHL and development of its novel inhibitor with the potential to suppress EGFR activity. Cellular and Molecular Life Sciences, 78, 207-225.

Hettiarachchi, D., Panchal, H., Lai, P. S., & Dissanayake, V. H. W. (2020). Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly-a case report. BMC Medical Genetics, 21, 1-7.

Leuthard, F., Lehner, G., Jagannathan, V., Leeb, T., & Welle, M. (2019). A missense variant in the NSDHL gene in a Chihuahua with a congenital cornification disorder resembling inflammatory linear verrucous epidermal nevi. Animal genetics, 50(6), 768-771.

Xin, Y., Li, C., Guo, Y., Xiao, R., Zhang, H., & Zhou, G. (2019). RNA-Seq analysis reveals a negative role of MSMO1 with a synergized NSDHL expression during adipogenesis of 3T3-L1. Bioscience, biotechnology, and biochemistry, 83(4), 641-652.

Getz, G. I., Parag-Sharma, K., Reside, J., Padilla, R. J., & Amelio, A. L. (2019). Identification of NSDHL mutations associated with CHILD syndrome in oral verruciform xanthoma. Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 128(1), 60-69.

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

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