Mouse Anti-DYM Recombinant Antibody (1C2) (CBMAB-D1987-YC)

Name: Mouse Anti-DYM Recombinant Antibody (1C2)
SKU: CBMAB-D1987-YC
Rating: 5 (1 reviews)

See all DYM antibodies

Compare Online Inquiry

Datasheet

SDS

Request for COA

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

Basic Information

Host Animal

Mouse

Clone

1C2

Application

ELISA

Immunogen

DYM (NP_060123, 343 a.a. ~ 431 a.a) partial recombinant protein with GST tag.

Specificity

Human

Antibody Isotype

IgG1, 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!]

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

dymeclin

Introduction

DYM is a protein which regulates Golgi-associated secretory pathways that are essential to endochondral bone formation during early development. This gene is also believed to play a role in early brain development. This gene is widely expressed in embryos and is particularly abundant in chodrocytes and brain tissues. It encodes a peripheral membrane protein which shuttles between the cytosol and Golgi complex. Mutations in this gene are associated with two types of recessive osteochondrodysplasia: Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia.

Entrez Gene ID

54808

UniProt ID

Q7RTS9

Alternative Names

Dymeclin; Dyggve-Melchior-Clausen Syndrome Protein; DMC; SMC;

Research Area

Necessary for correct organization of Golgi apparatus. Involved in bone development.

Biological Process

Bone development Source: UniProtKB
Golgi organization Source: UniProtKB

Cellular Location

Golgi apparatus; Cytoplasm; Membrane. Sequence analysis programs clearly predict 1 transmembrane region. However, PubMed:18996921 shows that it is not a stably anchored transmembrane protein but it weakly associates with the Golgi apparatus and shuttles between the Golgi and the cytosol.

Involvement in disease

Dyggve-Melchior-Clausen syndrome (DMC):
A rare autosomal recessive disorder belonging to the group of spondyloepimetaphyseal dysplasias. DMC is characterized by progressive short stature with short trunk dwarfism, microcephaly, protruding sternum, and psychomotor retardation. Radiological features include a platyspondyly with double vertebral humps, an epiphyso-metaphyseal dysplasia and lacy pelvis iliac crests.
Smith-McCort dysplasia 1 (SMC1):
A rare autosomal recessive osteochondrodysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen syndrome, but with normal intelligence and no microcephaly. It is characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest.

PTM

Myristoylated in vitro; myristoylation is not essential for protein targeting to Golgi compartment.

Gaboon, N. E., Parveen, A., Ahmad, K. A., Shuaib, T., Al-Aama, J. Y., Abdelwehab, L., ... & Wasif, N. (2020). A novel homozygous frameshift variant in DYM causing dyggve-melchior-clausen syndrome in Pakistani patients. Frontiers in Pediatrics, 8, 383.

Shah, P. W., Nawaz, S., Hussain, S., Ullah, A., Basit, S., & Ahmad, W. (2020). A homozygous nonsense variant in DYM underlies Dyggve–Melchior–Clausen syndrome associated with ectodermal features. Molecular Biology Reports, 47(9), 7083-7088.

Ask a question We look forward to hearing from you.

0 reviews or Q&As

Purchasing FAQs
Technical FAQs

Have you used Mouse Anti-DYM Recombinant Antibody (1C2)?
Submit a review and get a Coupon or an Amazon gift card. 20% off Coupon

$30 eGift Card
Submit a review

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

Alternative Versions

Mouse Anti-DYM Recombinant Antibody (1C2) (CAT#: V2LY-0425-LY1133)

Related Products

Mouse Anti-DYM Recombinant Antibody (1C2) (CAT#: V2LY-0425-LY1133)

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.).

Online Inquiry

Request bulk or custom quote Second antibody and isotype control

Contact us

Tel: (USA)
(UK)
Fax:

Global Locations

Email:

Online Inquiry