General description
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. (provided by RefSeq)
Immunogen
NSDHL (NP_057006, 1 a.a. ~ 110 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Sequence
MEPAVSEPMRDQVARTHLTEDTPKVNADIEKVNQNQAKRCTVIGGSGFLGQHMVEQLLARGYAVNVFDIQQGFDNPQVRFFLGDLCSRQDLYPALKGVNTVFHCASPPPS
Physical form
Solution in phosphate buffered saline, pH 7.4
Legal Information
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| biological source | mouse |
| Quality Segment | 100 |
| conjugate | unconjugated |
| antibody form | purified immunoglobulin |
| antibody product type | primary antibodies |
| clone | 6E3, monoclonal |
| form | buffered aqueous solution |
| species reactivity | human |
| technique(s) | indirect ELISA: suitable,western blot: 1-5 μg/mL |
| isotype | IgG2aκ |
| GenBank accession no. | NM_015922 |
| UniProt accession no. | Q15738 |
| shipped in | dry ice |
| storage temp. | −20°C |
| target post-translational modification | unmodified |
| Gene Information | human ... NSDHL(50814) |
