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.
면역원
Recombinant fusion protein containing a sequence corresponding to amino acids 1-240 of human NSDHL (NP_057006.1).
물리적 형태
PBS with 0.02% sodium azide,50% glycerol,pH7.3.
저장 및 안정성
Store at -20℃. Avoid freeze / thaw cycles.
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Storage Class Code
12 - Non Combustible Liquids
WGK
WGK 1
Flash Point (°F)
Not applicable
Flash Point (°C)
Not applicable
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시험 성적서(COA)
Lot/Batch Number
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