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    NSDHL

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    For Research Use Only. Not For Clinical Use.


    Background

    The protein encoded by this gene 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.
    Protein class

    Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets

    Predicted location

    Intracellular, Membrane (different isoforms)

    Single cell type specificity

    Cell type enhanced (Hepatocytes, Basal respiratory cells)

    Immune cell specificity

    Low immune cell specificity

    Cell line specificity

    Low cell line specificity

    Interaction

    Homodimer.

    Molecular function

    Oxidoreductase

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