GTX51622
DHCR7 antibody
Cannot supply to this region.
- SKU:
- GTX51622
- Additional Names:
- 7-dehydrocholesterol reductase , SLOS
- Application:
- WB
- Concentration:
- 1 mg/ml
- Physical State:
- Liquid
- Species Reactivity:
- Human
- Purification:
- Protein A Purified
- Storage Conditions:
- -20[o]C Aliquot. Avoid freeze/thaw cycles. Store undiluted., 2-8[o]C Aliquot. Avoid freeze/thaw cycles. Store undiluted., -20[o]C/-70[o]C Aliquot. Avoid freeze/thaw cycles. Store undiluted.
- Supplier:
- Genetex
- Host:
- Rabbit
- Reactivities:
- Human
- Buffer:
- 1% BSA, 50% Glycerol, 0.09% Sodium azide.
- Immunogen:
- KLH conjugated synthetic peptide derived from human DHCR7(370-420).
- Uniprot:
- Q9UBM7
- Synonyms:
- 7-dehydrocholesterol reductase;7-DHC reductase;delta-7-dehydrocholesterol reductase;delta7-sterol reductase;putative sterol reductase SR-2;SLOS;sterol delta-7-reductase;Sterol Delta(7)-reductase;sterol reductase SR-2
- Extra Details:
- 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]
- Shipping Conditions:
- Blue Ice