Dymeclin (DYM) Recombinant Protein | DYM recombinant protein

Recombinant Dymeclin (DYM)

Cat. Num. AAA2009102

• Gene Names: DYM; DMC; SMC
• Applications: SDS-Page, Western Blot, ELISA, Immunoprecipitation
• Purity: > 95%
• Synonyms: Dymeclin (DYM); Recombinant Dymeclin (DYM); DYM recombinant protein

• Host: E Coli
• Purity/Purification: > 95%
• Form/Format: Supplied as lyophilized form in PBS,pH7.4, containing 5% sucrose, 0.01% sarcosyl.
• Sequence: The target protein is fused with N-terminal His-Tag, its sequence is listed below.; MGHHHHHHSGSEF-SLHHN PNLVYALLYK RDLFEQFRTH PSFQDIMQNI DLVISFFSSR LLQAGAELSV ERVLEIIKQG VVALPKDRLK KFPELKFKYV EEEQPEEFFI PYVWSLVYNS AVGLYWNPQD IQLFTMDSD
• Sequence Length: 669

• Applicable Applications for DYM recombinant protein: SDS-PAGE, Western Blot (WB), ELISA (EIA), Immunoprecipitation (IP)
• Organism: Homo sapiens (Human)
• Expression System: Prokaryotic expression
• Residues: Ser546~Asp669 (Accession # Q7RTS9) with N-terminal His-Tag
• Endotoxin Level: <1.0EU per 1ug (determined by the LAL method)
• Reconstitution: Reconstitute in sterile PBS, pH7.2-pH7.4.
• Preparation and Storage: Avoid repeated freeze/thaw cycles. Store at 2-8 degree C for one month. Aliquot and store at -80 degree C for 12 months.; Stability Test: The thermal stability is described by the loss rate of the targetprotein. The loss rate was determined by accelerated thermal degradation test,that is, incubate the protein at 37 degree C for 48h, and no obvious degradation andprecipitation were observed. (Referring from China Biological Products Standard,which was calculated by the Arrhenius equation.) The loss of this protein is lessthan 5% within the expiration date under appropriate storage condition.

NCBI and Uniprot Product Information

• NCBI GI #: 157779137
• NCBI GeneID: 54808
• NCBI Accession #: NP_060123.3
• NCBI GenBank Nucleotide #: NM_017653.3
• UniProt Accession #: Q7RTS9; Q3ZTS8; Q6P2P5; Q8N2M0; Q9BVE9; Q9NPU7; A8K5I8; B2RCF9; B4DKI7
• Molecular Weight: 16.2kDa
• NCBI Official Full Name: dymeclin
• NCBI Official Synonym Full Names: dymeclin
• NCBI Official Symbol: DYM
• NCBI Official Synonym Symbols: DMC; SMC
• NCBI Protein Information: dymeclin; dyggve-Melchior-Clausen syndrome protein
• UniProt Protein Name: Dymeclin
• Protein Family: Dymeclin
• UniProt Gene Name: DYM
• UniProt Entry Name: DYM_HUMAN

NCBI Description

This gene encodes a protein which is necessary for normal skeletal development and brain function. Mutations in this gene are associated with two types of recessive osteochondrodysplasia, Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia, which involve both skeletal defects and mental retardation. [provided by RefSeq, Jul 2008]

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