Human DHCR7 (7-dehydrocholesterol reductase) ELISA Kit

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935106861
info@markelab.com
name
Human DHCR7 (7-dehydrocholesterol reductase) ELISA Kit
category
ELISA Kits
provider
FineTest
reference
EH13908
tested applications
ELISA

Documents del producto

Instrucciones
Descargar
Data sheet

Product specifications

Category
ELISA Kits
Reactivity
Human
Detection Method
Colorimetric
Assay Data
4 hours
Assay Type
Sandwich ELISA, Double Antibody
Test Range
15.625-1000pg/ml
Sensitivity
9.375pg/ml
Size 1
96T
Tested Applications
ELISA
Sample Type
Serum, Plasma, Cell Culture Supernatant, cell or tissue lysate, Other liquid samples
Availability
Shipped within 10-14 working days.
Storage
2-8 °C for 12 months
UniProt ID
Q9UBM7
Alias
7-dehydrocholesterol reductase, 7-DHC reductase, Delta7-sterol reductase, Sterol Delta(7)-reductase, Sterol reductase SR-2, DHCR7, D7SR
Background
Elisa kits for DHCR7
Status
RUO

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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.

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