7-Dehydrocholesterol Reductase (DHCR7)
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DHCR-7; SLOS; Smith-Lemli-Opitz Syndrome
 HGNC 2860
 MGI 1298378
 PubMed 12914579
 RGD 621769
 UniProt Q9UBM7
 USCN C270
 Wiki DHCR7
7-Dehydrocholesterol Reductase (DHCR7)
7-dehydrocholesterol reductase 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.
Organism species: Homo sapiens (Human)
CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC270Hu01 Recombinant 7-Dehydrocholesterol Reductase (DHCR7) SDS-PAGE; WB; ELISA; IP.
Antibodies MAC270Hu22 Monoclonal Antibody to 7-Dehydrocholesterol Reductase (DHCR7) WB, ICC, IHC-P, IHC-F, ELISA
PAC270Hu01 Polyclonal Antibody to 7-Dehydrocholesterol Reductase (DHCR7) WB, ICC, IHC-P, IHC-F, ELISA
Assay Kits SEC270Hu ELISA Kit for 7-Dehydrocholesterol Reductase (DHCR7) Enzyme-linked immunosorbent assay
Organism species: Mus musculus (Mouse)
CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a n/a n/a
Antibodies n/a n/a n/a
Assay Kits n/a n/a n/a
Organism species: Rattus norvegicus (Rat)
CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a n/a n/a
Antibodies n/a n/a n/a
Assay Kits n/a n/a n/a