Product Name
NSDHL, Recombinant Protein
Full Product Name
NSDHL, 1-297aa, Human, His tag, E Coli
Product Synonym Names
Sterol-4-alpha-carboxylate 3-dehydrogenase decarboxylating; Sterol-4-alpha-carboxylate 3-dehydrogenase; decarboxylating; H105E3; SDR31E1; XAP104
Product Gene Name
NSDHL recombinant protein
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence
MGSSHHHHHH SSGLVPRGSH MGSMEPAVSE PMRDQVARTH LTEDTPKVNA DIEKVNQNQA KRCTVIGGSG FLGQHMVEQL LARGYAVNVF DIQQGFDNPQ VRFFLGDLCS RQDLYPALKG VNTVFHCASP PPSSNNKELF YRVNYIGTKN VIETCKEAGV QKLILTSSAS VIFEGVDIKN GTEDLPYAMK PIDYYTETKI LQERAVLGAN DPEKNFLTTA IRPHGIFGPR DPQLVPILIE AARNGKMKFV IGNGKNLVDF TFVENVVHGH ILAAEQLSRD STLGGKAFHI TNDEPIPFWT FLSRILTGLN YEAPKYHIPY
3D Structure
ModBase 3D Structure for Q15738
Purity/Purification
> 80% by SDS-PAGE
Form/Format
Liquid. 20mM Tris-HCl Buffer (pH 8.0) containing 10% glycerol 0.1M NaCl
Concentration
0.25 mg/ml (determined by Bradford assay) (lot specific)
Preparation and Storage
Can be stored at 4 degree C short term (1-2 weeks).
For long term storage, aliquot and store at -20 degree C or -70 degree C.
Avoid repeated freezing and thawing cycles.
Other Notes
Small volumes of NSDHL recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
Related Product Information for
NSDHL recombinant protein
NSDHL, as known as Sterol-4-alpha-carboxylate 3-dehydrogenase, is involved in the production (synthesis) of cholesterol. During cholesterol synthesis, it participates in one of several steps that convert a molecule called lanosterol to cholesterol. Specifically, this enzyme removes a carbon atom and three hydrogen atoms (a methyl group) in the conversion of lanosterol to cholesterol. It is also an important component of cell membranes and myelin, the fatty covering that insulates nerve cells. Recombinant human NSDHL protein, fused to His-tag at N-terminus, was expressed in E Coli and purified by using conventional chromatography.
Product Categories/Family for NSDHL recombinant protein
Metabolism
Applications Tested/Suitable for NSDHL recombinant protein
SDS-PAGE
SDS-Page of NSDHL recombinant protein
NCBI/Uniprot data below describe general gene information for NSDHL. It may not necessarily be applicable to this product.
NCBI Accession #
NP_057006
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NCBI GenBank Nucleotide #
NM_015922.2
[Other Products]
UniProt Primary Accession #
Q15738
[Other Products]
UniProt Secondary Accession #
O00344; D3DWT6[Other Products]
UniProt Related Accession #
Q15738[Other Products]
Molecular Weight
35.5kDa (320aa), confirmed by MALDI-TOF
NCBI Official Full Name
sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
NCBI Official Synonym Full Names
NAD(P) dependent steroid dehydrogenase-like
NCBI Official Symbol
NSDHL [Similar Products]
NCBI Official Synonym Symbols
H105E3; XAP104; SDR31E1
[Similar Products]
NCBI Protein Information
sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
UniProt Protein Name
Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
UniProt Synonym Protein Names
Protein H105e3
UniProt Gene Name
NSDHL [Similar Products]
UniProt Synonym Gene Names
H105E3 [Similar Products]
NCBI Summary for NSDHL
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, Jul 2008]
UniProt Comments for NSDHL
Involved in the sequential removal of two C-4 methyl groups in post-squalene cholesterol biosynthesis.
Product References and Citations for NSDHL recombinant protein
Morimoto M. et al. (2012) J Mol Histol. 43:95-106; McLarren KW. et al. (2010) Am J Hum Genet 87:905-914.;
Research Articles on NSDHL
1. Here we present the case of a 9-year-old Chinese girl born with the typical clinical features of CHILD syndrome. Evaluation of the skin lesions confirmed the diagnosis and led to identification of a heterozygous point mutation in exon 8 of the NSDHL gene.
Precautions
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Disclaimer
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