Rabbit Anti-DHCR7/FITC Conjugated antibody

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7 dehydrocholesterol reductase; 7 DHC reductase; Delta 7 dehydrocholesterol reductase; Putative sterol reductase SR 2; Sterol Delta; DHCR7_HUMAN.

Cat:

SL5057R-FITC

Species Reactivity：

Mouse,(predicted: Human,Rat,Chicken,Dog,Cow,Horse,)

Immunogen：

KLH conjugated synthetic peptide derived from human DHCR7

Format：

Lyophilized or Liquid

Storage instructions：

Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of ant

Buffer：

0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.

Concentration：

1mg/ml

Clonality：

Polyclonal

Isotype：

IgG

Applications：

IF=1:50-200not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.

Host：

Rabbit

Calculated MW：

54kDa

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Unit:

Price: $596.00

Product PDFs

Datasheet: Down Datasheet

Other Information
Citations
Protein Attributes
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background:
The DHCR7 gene encodes delta-7-sterol reductase (EC 1.3.1.21), the penultimate enzyme of mammalian sterol biosynthesis that converts 7-dehydrocholesterol (7-DHC) to cholesterol.

Function:
Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC).

Subcellular Location:
Endoplasmic reticulum membrane; Multi-pass membrane protein.

Tissue Specificity:
Most abundant in adrenal gland, liver, testis, and brain.

DISEASE:
Defects in DHCR7 are the cause of Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]; also known as SLO syndrome or RSH syndrome. SLOS is an autosomal recessive frequent inborn disorder of sterol metabolism with characteristic congenital malformations and dysmorphias. All patients suffer from mental retardation. Children with SLOS have elevated serum 7-dehydrocholesterol (7-DHC) levels and low serum cholesterol levels. SLOS occurs in relatively high frequency: approximately 1 in 20,000 to 30,000 births in populations of northern and central European background. Historically, a clinical distinction often was made between classic ('type I') SLOS and the more severely affected ('type II') patients. There is, in reality, a clinical and biochemical continuum from mild to severe SLOS.

Similarity:
Belongs to the ERG4/ERG24 family.

Database links:

Entrez Gene: 1717 Human

Entrez Gene: 1372 Mouse

Entrez Gene: 64191 Rat

Omim: 602858 Human

SwissProt: Q9UBM7 Human

SwissProt: O88455 Mouse

SwissProt: Q9Z2Z8 Rat

Unigene: 503134 Human

Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.

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