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Product Name Anti-SCCD/AF594 Chinese Name AF594标记的抑癌蛋白UBIAD1抗体 Alias UBIAD1; RP4-796F18.1; SCCD; TERE 1; tere1; Transitional epithelia response protein; Transitional epithelial response protein 1; UbiA prenyltransferase domain containing 1; UbiA prenyltransferase domain containing protein 1; UbiA prenyltransferase domain-containing protein 1; UBIA1_HUMAN; UBIAD 1; Ubiad1. Research Area Tumour Cell biology Immunogen Species Rabbit Clonality Polyclonal React Species Applications ICC=1:50-200 IF=1:50-200
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Molecular weight 37kDa Form Lyophilized or Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human SCCD Lsotype IgG Purification affinity purified by Protein A Storage Buffer 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C. Product Detail background:
This gene encodes a protein thought to be involved in cholesterol and phospholipid metabolism. Mutations in this gene are associated with Schnyder crystalline corneal dystrophy. [provided by RefSeq, Oct 2008]
Function:
Prenyltransferase that mediates the formation of menaquinone-4 (MK-4) and coenzyme Q10. MK-4 is a vitamin K2 isoform present at high concentrations in the brain, kidney and pancreas, and is required for endothelial cell development. Mediates the conversion of phylloquinone (PK) into MK-4, probably by cleaving the side chain of phylloquinone (PK) to release 2-methyl-1,4-naphthoquinone (menadione; K3) and then prenylating it with geranylgeranyl pyrophosphate (GGPP) to form MK-4. Also plays a role in cardiovascular development independently of MK-4 biosynthesis, by acting as a coenzyme Q10 biosyntetic enzyme: coenzyme Q10, also named ubiquinone, plays a important antioxidant role in the cardiovascular system. Mediates biosynthesis of coenzyme Q10 in the Golgi membrane, leading to protect cardiovascular tissues from NOS3/eNOS-dependent oxidative stress.
Subcellular Location:
Endoplasmic reticulum membrane. Cytoplasm. Nucleus. Mitochondrion.
Tissue Specificity:
Ubiquitously expressed.
DISEASE:
Defects in UBIAD1 are the cause of crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]. SCCD is a rare autosomal dominant disease characterized by progressive corneal opacification resulting from abnormal deposition of cholesterol and phospholipids.
Similarity:
Belongs to the ubiA prenyltransferase family.
Database links:Entrez Gene: 29914 Human
Entrez Gene: 71707 Mouse
Omim: 611632 Human
SwissProt: Q9Y5Z9 Human
SwissProt: Q9DC60 Mouse
Unigene: 522933 Human
Unigene: 292503 Mouse
Unigene: 203344 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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