GTX641713
DHCR7 antibody [HL3685]
Eine Lieferung in diese Region ist nicht möglich.
- SKU:
- GTX641713
- Zusätzliche Namen:
- 7-dehydrocholesterol reductase , SLOS
- Anwendung:
- WB, IF, ICC
- Konzentration:
- 1 mg/ml
- Physischer Zustand:
- Liquid
- Spezies-Reaktivität:
- Human
- Aufreinigung:
- Protein A Purified
- Lagerbedingungen:
- -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.
- Hersteller:
- Genetex
- Host:
- Rabbit
- Reaktivitäten:
- Human
- Buffer:
- PBS, no preservatives.
- Immunogen:
- Synthetic peptide of human DHCR7.
- Klon:
- HL3685
- Uniprot:
- Q9UBM7
- Synonyme:
- 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
- Weitere 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 cognitive disability, 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]
- Versandbedingungen:
- Blue Ice