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NSDHL

Soluble T Cell Receptor Products Formats

Anti-NSDHL Recombinant Antibody Products

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For Research Use Only. Not For Clinical Use.


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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