Metabolism Antibodies 3
Anti-DHCR7 Antibody (CAB8049)
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- SKU:
- CAB8049
- Product Type:
- Antibody
- Applications:
- WB
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Research Area:
- Metabolism
Description
| Antibody Name: | DHCR7 Rabbit Polyclonal Antibody |
| Antibody SKU: | CAB8049 |
| Antibody Size: | 20uL, 50uL, 100uL |
| Application: | WB |
| Reactivity: | Human |
| Host Species: | Rabbit |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 346-475 of human DHCR7 (NP_001351.2). |
| Application: | WB |
| Recommended Dilution: | WB 1:500 - 1:2000 |
| Reactivity: | Human |
| Positive Samples: | MCF7, HepG2, HeLa |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 346-475 of human DHCR7 (NP_001351.2). |
| Purification Method: | Affinity purification |
| Storage Buffer: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
| Isotype: | IgG |
| Sequence: | VGYY IFRV ANHQ KDLF RRTD GRCL IWGR KPKV IECS YTSA DGQR HHSK LLVS GFWG VARH FNYV GDLM GSLA YCLA CGGG HLLP YFYI IYMA ILLT HRCL RDEH RCAS KYGR DWER YTAA VPYR LLPG IF |
| Gene ID: | 1717 |
| Uniprot: | Q9UBM7 |
| Cellular Location: | Endoplasmic reticulum membrane, Multi-pass membrane protein |
| Calculated MW: | 54kDa |
| Observed MW: | 70kDa |
| Synonyms: | DHCR7, SLOS |
| Background: | This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by mental retardation, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein. |
| UniProt Protein Function: | DHCR7: Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC). Defects in DHCR7 are the cause of Smith-Lemli-Opitz syndrome (SLOS); also known as SLO syndrome or RSH syndrome. SLOS is an autosomal recessive frequent inborn disorder of sterol metabolism with characteristic congenital malformations and dysmorphias. All patients suffer from mental retardation. Children with SLOS have elevated serum 7-dehydrocholesterol (7- DHC) levels and low serum cholesterol levels. SLOS occurs in relatively high frequency: approximately 1 in 20,000 to 30,000 births in populations of northern and central European background. Historically, a clinical distinction often was made between classic ('type I') SLOS and the more severely affected ('type II') patients. There is, in reality, a clinical and biochemical continuum from mild to severe SLOS. Belongs to the ERG4/ERG24 family. |
| UniProt Protein Details: | Protein type:EC 1.3.1.21; Membrane protein, multi-pass; Membrane protein, integral; Oxidoreductase; Lipid Metabolism - steroid biosynthesis Chromosomal Location of Human Ortholog: 11q13.4 Cellular Component: endoplasmic reticulum; endoplasmic reticulum membrane; integral to endoplasmic reticulum membrane; membrane; nuclear outer membrane Molecular Function:7-dehydrocholesterol reductase activity Biological Process: cholesterol biosynthetic process; cholesterol biosynthetic process via desmosterol; cholesterol biosynthetic process via lathosterol Disease: Smith-lemli-opitz Syndrome |
| NCBI Summary: | This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by mental retardation, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009] |
| UniProt Code: | Q9UBM7 |
| NCBI GenInfo Identifier: | 20138066 |
| NCBI Gene ID: | 1717 |
| NCBI Accession: | Q9UBM7.1 |
| UniProt Secondary Accession: | Q9UBM7,O60492, O60717, B2R6Z2, |
| UniProt Related Accession: | Q9UBM7 |
| Molecular Weight: | 54,489 Da |
| NCBI Full Name: | 7-dehydrocholesterol reductase |
| NCBI Synonym Full Names: | 7-dehydrocholesterol reductase |
| NCBI Official Symbol: | DHCR7 |
| NCBI Official Synonym Symbols: | SLOS |
| NCBI Protein Information: | 7-dehydrocholesterol reductase |
| UniProt Protein Name: | 7-dehydrocholesterol reductase |
| UniProt Synonym Protein Names: | Putative sterol reductase SR-2; Sterol Delta(7)-reductase |
| Protein Family: | Probable 7-dehydrocholesterol reductase |
| UniProt Gene Name: | DHCR7 |
| UniProt Entry Name: | DHCR7_HUMAN |
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