The NSDHL Polyclonal Antibody from Bioss Inc. is a Rabbit Polyclonal antibody to HAPLN1. This antibody recognizes Homo Sapiens, and Human antigen. The NSDHL Polyclonal Antibody has been shown to work in the following applications: EIA, Immunoassay, ELISA, Immunocytochemistry, Immunofluorescence, Immunohistochemistry, Immunohistochemistry - fixed, Immunohistochemistry - frozen, and Western Blot.
Description
NSDHL is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene