SUMF1 Polyclonal Antibody
Purified Rabbit Polyclonal Antibody (Pab)
- 产品详情
- 实验流程
Application
| WB, IHC-P, IHC-F, IF, ICC, E |
|---|---|
| Primary Accession | Q8NBK3 |
| Reactivity | Rat, Pig, Dog, Bovine |
| Host | Rabbit |
| Clonality | Polyclonal |
| Calculated MW | 40556 Da |
| Physical State | Liquid |
| Immunogen | KLH conjugated synthetic peptide derived from human SUMF1 |
| Epitope Specificity | 301-374/374 |
| Isotype | IgG |
| Purity | affinity purified by Protein A |
| Buffer | 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol. |
| SUBCELLULAR LOCATION | Endoplasmic reticulum lumen. |
| SIMILARITY | Belongs to the sulfatase-modifying factor family. |
| SUBUNIT | Monomer, homodimer and heterodimer with SUMF2. |
| Post-translational modifications | N-glycosylated. Contains high-mannose-type oligosaccharides. |
| DISEASE | Defects in SUMF1 are the cause of multiple sulfatase deficiency (MSD) [MIM:272200]. MSD is a clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post-translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay. Inheritance is autosomal recessive. |
| Important Note | This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
| Background Descriptions | SUMF1 is a 374 amino acid alternatively spliced protein that localizes to the lumen of the endoplasmic reticulum and belongs to the sulfatase-modifying factor family. Expressed ubiquitously with highest expression in liver, kidney and pancreas, SUMF1 exists as either a monomer, a homodimer or a heterodimer (with SUMF2) and functions to oxidize sulfatase cysteine residues to an active FGIy residue, thereby playing an important role in sulfatase activity. Defects in the gene encoding SUMF1 are the cause of multiple sulfatase deficiency (MSD), a heterogeneous disorder characterized by metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay. |
| Gene ID | 285362 |
|---|---|
| Other Names | Formylglycine-generating enzyme, FGE, 1.8.3.7, C-alpha-formylglycine-generating enzyme 1, Sulfatase-modifying factor 1, SUMF1 {ECO:0000303|PubMed:12757706, ECO:0000312|HGNC:HGNC:20376} |
| Target/Specificity | Ubiquitous. Highly expressed in kidney, pancreas and liver. Detected at lower levels in leukocytes, lung, placenta, small intestine, skeletal muscle and heart. |
| Dilution | WB=1:500-2000,IHC-P=1:100-500,IHC-F=1:100-500,ICC=1:100-500,IF=1:100-500,ELISA=1:5000-10000 |
| Storage | Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. 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. |
| Name | SUMF1 {ECO:0000303|PubMed:12757706, ECO:0000312|HGNC:HGNC:20376} |
|---|---|
| Function | Oxidase that catalyzes the conversion of cysteine to 3- oxoalanine on target proteins, using molecular oxygen and an unidentified reducing agent (PubMed:12757706, PubMed:15657036, PubMed:15907468, PubMed:16368756, PubMed:21224894, PubMed:25931126). 3- oxoalanine modification, which is also named formylglycine (fGly), occurs in the maturation of arylsulfatases and some alkaline phosphatases that use the hydrated form of 3-oxoalanine as a catalytic nucleophile (PubMed:12757706, PubMed:15657036, PubMed:15907468, PubMed:16368756, PubMed:25931126). Known substrates include GALNS, ARSA, STS and ARSE (PubMed:12757706, PubMed:15657036, PubMed:15907468). |
| Cellular Location | Endoplasmic reticulum lumen |
| Tissue Location | Ubiquitous. Highly expressed in kidney, pancreas and liver. Detected at lower levels in leukocytes, lung, placenta, small intestine, skeletal muscle and heart |
Research Areas
For Research Use Only. Not For Use In Diagnostic Procedures.
Application Protocols
Provided below are standard protocols that you may find useful for product applications.
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Cat# AP54839
















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