DHCR7 Antibody (C-term) Blocking peptide
€363.00
In stock
SKU
AC-BP11452b
Background:
This gene encodes an enzyme that removes the C(7-8) doublebond in the B ring of sterols and catalyzes the conversion of7-dehydrocholesterol to cholesterol. This gene is ubiquitouslyexpressed and its transmembrane protein localizes to theendoplasmic reticulum membrane and nuclear outer membrane.Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); asyndrome that is metabolically characterized by reduced serumcholesterol levels and elevated serum 7-dehydrocholesterol levelsand phenotypically characterized by mental retardation, facialdysmorphism, syndactyly of second and third toes, andholoprosencephaly in severe cases to minimal physical abnormalitiesand near-normal intelligence in mild cases. Alternative splicingresults in multiple transcript variants that encode the sameprotein.
Other Names:
7-dehydrocholesterol reductase, 7-DHC reductase, Putative sterol reductase SR-2, Sterol Delta(7)-reductase, DHCR7, D7SR
Gene Name: DHCR7
Gene ID: 1717
Primary Accession: Q9UBM7
Format: Peptides are lyophilized in a solid powder format. Peptides can be reconstituted in solution using the appropriate buffer as needed.
This gene encodes an enzyme that removes the C(7-8) doublebond in the B ring of sterols and catalyzes the conversion of7-dehydrocholesterol to cholesterol. This gene is ubiquitouslyexpressed and its transmembrane protein localizes to theendoplasmic reticulum membrane and nuclear outer membrane.Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); asyndrome that is metabolically characterized by reduced serumcholesterol levels and elevated serum 7-dehydrocholesterol levelsand phenotypically characterized by mental retardation, facialdysmorphism, syndactyly of second and third toes, andholoprosencephaly in severe cases to minimal physical abnormalitiesand near-normal intelligence in mild cases. Alternative splicingresults in multiple transcript variants that encode the sameprotein.
Other Names:
7-dehydrocholesterol reductase, 7-DHC reductase, Putative sterol reductase SR-2, Sterol Delta(7)-reductase, DHCR7, D7SR
Gene Name: DHCR7
Gene ID: 1717
Primary Accession: Q9UBM7
Format: Peptides are lyophilized in a solid powder format. Peptides can be reconstituted in solution using the appropriate buffer as needed.
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