Mouse anti-Human DYM Monoclonal Antibody | anti-DYM antibody

DYM (Dymeclin, Dyggve-Melchior-Clausen Syndrome Protein, FLJ20071, FLJ90130) (AP)

Cat. Num. AAA6131026

• Reactivity: Human
• Applications: ELISA
• Purity: Purified by Protein A Affinity Chromatography.
• Synonyms: DYM; Monoclonal Antibody; DYM (Dymeclin; Dyggve-Melchior-Clausen Syndrome Protein; FLJ20071; FLJ90130) (AP); anti-DYM antibody

• Host: Mouse
• Reactivity: Human
• Clonality: Monoclonal
• Isotype: IgG1,k
• Clone Number: 1C2
• Specificity: Recognizes human DYM.
• Purity/Purification: Purified by Protein A Affinity Chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with Alkaline Phosphatase (AP).
• Sequence Length: 669

• Applicable Applications for anti-DYM antibody: ELISA (EIA)
• Application Notes: Applications are based on unconjugated antibody.
• Immunogen: Partial recombinant corresponding to aa343-431 from human DYM (NP_060123) with GST tag. MW of the GST tag alone is 26kD.
• Immunogen Sequence: QTSDQATLLLYTLLHQNSNIRTYMLARTDMENLVLPILEILYHVEERNSHHVYMALIILLILTEDDGFNRSIHEVILKNITWYSERVL
• Conjugate: AP
• Preparation and Storage: Store product at 4 degree C. DO NOT FREEZE! Stable at 4 degree C for 12 months after receipt as an undiluted liquid. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. For maximum recovery of product, centrifuge the original vial prior to removing the cap.

Testing Data

(Detection limit for recombinant GST tagged DYM is ~1ng/ml as a capture antibody.)

Related Product Information for anti-DYM antibody

AHI1, encoding the Jouberin protein, is an alternatively spliced signaling molecule that contains seven Trp-Asp (WD) repeats, an SH3 domain, and numerous SH3-binding sites. The gene is expressed strongly in embryonic hindbrain and forebrain, and AHI1 may be required for both cerebellar and cortical development in humans. Defects in AHI1 are the cause of Joubert syndrome 3, an autosomal recessive brain congenital malformation. The exact function of the AHI1 gene is not yet known.

Product Categories/Family for anti-DYM antibody

Antibodies; Heat Shock Proteins

NCBI and Uniprot Product Information

• NCBI GI #: 157779137
• NCBI Accession #: NP_060123
• NCBI GenBank Nucleotide #: NM_017653
• UniProt Accession #: Q7RTS9
• NCBI Official Full Name: dymeclin isoform 1
• UniProt Protein Name: Dymeclin
• Protein Family: Dymeclin
• UniProt Gene Name: DYM
• UniProt Entry Name: DYM_HUMAN

Uniprot Description

DYM: Necessary for correct organization of Golgi apparatus. Involved in bone development. Defects in DYM are the cause of Dyggve-Melchior-Clausen syndrome (DMC). DMC is a rare autosomal recessive disorder characterized by short trunk dwarfism, microcephaly and psychomotor retardation. Electron microscopic study of cutaneous cells of affected patients shows dilated rough endoplasmic reticulum, enlarged and aberrant vacuoles and numerous vesicles. DMC is progressive. Defects in DYM are the cause of Smith-McCort dysplasia (SMC). SMC is a rare autosomal recessive osteochondrodysplasia 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, features identical to those of Dyggve-Melchior-Clausen syndrome. Belongs to the dymeclin family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral

Chromosomal Location of Human Ortholog: 18q21.1

Cellular Component: Golgi apparatus; cytoplasm

Molecular Function: protein binding; enzyme binding

Biological Process: Golgi organization and biogenesis

Disease: Dyggve-melchior-clausen Disease; Smith-mccort Dysplasia 1