The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
1/1000 - 1/10000. Detects a band of approximately 38 kDa (predicted molecular weight: 42 kDa).
1/50 - 1/100. Perform heat mediated antigen retrieval with Tris/EDTA buffer pH 9.0 before commencing with IHC staining protocol.
Brain, heart, liver, lung, kidney, skin and placenta.
Steroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 4/6.
Involvement in disease
Defects in NSDHL are the cause of congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050]. CHILD is an X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, which typically results in male lethality. Clinically, it is characterized by congenital, unilateral, ichthyosisform erythroderma with striking lateralization, sharp midline demarcation, and ipsilateral limb defects and hypoplasia of the body. Limbs defects range from hypoplasia of digits or ribs to complete amelia, often including scoliosis. Defects in NSDHL are the cause of CK syndrome (CKS) [MIM:300831]. CKS is a disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus.
Immunohistochemical analysis of paraffin-embedded Human adenocarcinoma of endometrium tissue labeling NSDHL with ab190353 at 1/100 dilution. Secondary antibody HRP Polymer for Rabbit IgG prediluted. Counter stain Hematoxylin. Negative control also shown.
Immunohistochemical analysis of paraffin-embedded Human liver tissue labeling NSDHL with ab190353 at 1/100 dilution. Secondary antibody HRP Polymer for Rabbit IgG prediluted. Counter stain Hematoxylin. Negative control also shown.
Immunofluorescence analysis of U87-MG cells, labeling NSDHL (red) with ab190353 at 1/50 dilution. Alexa Fluor®555-conjugated goat anti-rabbit IgG was used as a secondary antibody at 1/200 dilution. Nuclei were counterstained with DAPI (blue).