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

Name: Mouse Anti-DYM Recombinant Antibody (1C2)
SKU: V2LY-0425-LY1133
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

1C2

Application

ELISA

Immunogen

DYM (aa343-431) partial recombinant protein.

Host Species

Mouse

Specificity

Human, Mouse, Rat

Antibody Isotype

IgG1, κ

Clonality

Monoclonal Antibody

Application Notes

Application	Note
WB	1 µg/ml
IF(ICC)	2-4 µg/ml
IP	1:10-1:500
IHC-P	1:10-1:500
FC	1-2 µg/ml

Formulations & Storage [For reference only, actual COA shall prevail!]

Format

Liquid

Buffer

PBS

Preservative

None

Concentration

Batch dependent

Purity

>95% as determined by analysis by SDS-PAGE

Storage

Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

More Infomation

Target

Full Name

dymeclin

Entrez Gene ID

54808

UniProt ID

Q7RTS9

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.

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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

Alternative Versions

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

Related Products

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

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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