Mouse Anti-DEGS1 Recombinant Antibody (2E9) (CBMAB-D0692-YC)

Name: Mouse Anti-DEGS1 Recombinant Antibody (2E9)
SKU: CBMAB-D0692-YC
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

2E9

Application

ELISA

Immunogen

DEGS1 (aa226-324) partial recombinant protein.

Host Species

Mouse

Specificity

Human

Antibody Isotype

IgG2b, κ

Clonality

Monoclonal Antibody

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

Preservative

None

Concentration

Batch dependent

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

degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)

Introduction

DEGS1 belongs to the membrane fatty acid desaturase family which is responsible for inserting double bonds into specific positions in fatty acids. This protein contains three His-containing consensus motifs that are characteristic of a group of membrane fatty acid desaturases. It is predicted to be a multiple membrane-spanning protein localized to the endoplasmic reticulum. Overexpression of this gene inhibited biosynthesis of the EGF receptor, suggesting a possible role of a fatty acid desaturase in regulating biosynthetic processing of the EGF receptor.

Entrez Gene ID

8560

UniProt ID

O15121

Alternative Names

Delta 4-Desaturase, Sphingolipid 1; Cell Migration-Inducing Gene 15 Protein; Sphingolipid Delta(4)-Desaturase 1; Dihydroceramide Desaturase 1; Membrane Lipid Desaturase; DES1; MLD; Degenerative Spermatocyte Homolog 1, Lipid Desaturase (Drosophila); Degenerative Spermatocyte Homolog 1, Lipid Desaturase; Degenerative Spermatocyte Homolog, Lipid Desaturase; Membrane Fatty Acid (Lipid) Desaturase;

Function

Has sphingolipid-delta-4-desaturase activity. Converts D-erythro-sphinganine to D-erythro-sphingosine (E-sphing-4-enine) (PubMed:11937514, PubMed:30620337, PubMed:30620338).

Catalyzes the equilibrium isomerization of retinols (By similarity).

Biological Process

Ceramide biosynthetic process Source: GO_Central
Myelin maintenance Source: UniProtKB
Neutrophil degranulation Source: Reactome
Dphingolipid biosynthetic process Source: Reactome
Unsaturated fatty acid biosynthetic process Source: ProtInc

Cellular Location

Endoplasmic reticulum membrane; Mitochondrion membrane

Involvement in disease

Leukodystrophy, hypomyelinating, 18 (HLD18):
An autosomal recessive disorder characterized by hypomyelinating leukodystrophy with progressive atrophy of the corpus callosum, thalami and cerebellum, and peripheral neuropathy. Clinical features include very poor psychomotor development, dystonia, severe spasticity, seizures, and failure to thrive.

PTM

Myristoylation can target the enzyme to the mitochondria leading to an increase in ceramide levels.

Yi, L., Liu, J., Deng, M., Zuo, H., & Li, M. (2021). Emodin inhibits viability, proliferation and promotes apoptosis of hypoxic human pulmonary artery smooth muscle cells via targeting miR-244-5p/DEGS1 axis. BMC pulmonary medicine, 21(1), 1-16.

Jin, S., Lee, S. H., Lee, D. H., Manjula, P., Lee, S. H., & Lee, J. H. (2020). Genetic association of DEGS1, ELOVL6, FABP3, FABP4, FASN and SCD genes with fatty acid composition in breast and thigh muscles of Korean native chicken. Anim Genet, 51(2), 344-345.

Pant, D. C., Dorboz, I., Schluter, A., Fourcade, S., Launay, N., Joya, J., ... & Pujol, A. (2019). Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy. The Journal of clinical investigation, 129(3), 1240-1256.

Blackburn, N. B., Michael, L. F., Meikle, P. J., Peralta, J. M., Mosior, M., McAhren, S., ... & Curran, J. E. (2019). Rare DEGS1 variant significantly alters de novo ceramide synthesis pathway [S]. Journal of lipid research, 60(9), 1630-1639.

Dolgin, V., Straussberg, R., Xu, R., Mileva, I., Yogev, Y., Khoury, R., ... & Birk, O. S. (2019). DEGS1 variant causes neurological disorder. European Journal of Human Genetics, 27(11), 1668-1676.

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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

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Isotype control

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

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