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NSDHL cdna clone

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Catalog # MBS1274623
Unit / Price
  0.01 mg Plasmid + 0.2 mL Glycerol-Stock  /  $165 +1 FREE 8GB USB
NSDHL cdna clone
Product Name

NSDHL, cDNA Clone

Also Known As

NSDHL cDNA Clone

Product Gene Name
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence Length
1122
Sequence
atggaaccag cagttagcga gccaatgaga gaccaagtcg cacggactca tttgacagag gacactccca aagtgaatgc tgacatagaa aaggttaacc agaatcaggc caagagatgc acagtgatcg ggggctctgg attcctgggg cagcacatgg tggagcagtt gctggcaaga ggatatgctg tcaatgtatt tgatatccag caagggtttg ataatcccca ggtgcggttc tttctgggtg acctctgcag ccgacaggat ctgtacccag ctctgaaagg tgtaaacaca gttttccact gtgcgtcacc cccaccatcc agtaacaaca aggagctctt ttatagagtg aattacattg gcaccaagaa tgtcattgaa acttgcaaag aggctggggt tcagaaactc attttaacca gcagtgccag tgtcatcttt gagggcgtcg atatcaagaa tggaactgaa gaccttccct atgccatgaa acccattgac tactacacag agactaagat cttacaggag agggcagttc tgggcgccaa cgatcctgag aagaatttct taaccacagc catccgccct catggcattt tcggcccaag ggacccgcag ttggtaccca tcctcatcga ggcagccagg aacggcaaga tgaagttcgt gattggaaat gggaagaact tggtggactt cacctttgtg gagaacgtgg tccatggaca catcctggcg gcagagcagc tctcccgaga ctcgacactg ggtgggaagg catttcacat caccaatgat gagcccatcc ctttctggac attcctgtct cgcatcctga caggcctcaa ttatgaggcc cccaagtacc acatccccta ctgggtggcc tactacctgg ccctcctgct atccctgctg gtgatggtga tcagtcctgt catccagctg cagcccacct tcacacccat gcgggtcgca ctggctggca cattccacta ctacagctgc gagagagcca aaaaggccat gggctaccag ccactagtga ccatggatga tgctatggag aggaccgtgc agagctttcg ccacctgcgg agggtcaagt ga
OMIM
300275
Vector
pENTR223.1 or pUC
Clone Sequence Report
Provided with product shipment
ISO Certification
Manufactured in an ISO 9001:2008 Certified Laboratory.
Other Notes
Small volumes of NSDHL cdna clone 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.
NCBI/Uniprot data below describe general gene information for NSDHL. It may not necessarily be applicable to this product.
NCBI GI #
NCBI GeneID
NCBI Accession #
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
41,900 Da
NCBI Official Full Name
Homo sapiens NAD(P) dependent steroid dehydrogenase-like, mRNA
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]
UniProt Entry Name
NSDHL_HUMAN
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
NSDHL: Defects in NSDHL are the cause of congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD). CHILD is an X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, which typically results in male lethality. Clinically, it is characterized by congenital, unilateral, ichthyosisform erythroderma with striking lateralization, sharp midline demarcation, and ipsilateral limb defects and hypoplasia of the body. Limbs defects range from hypoplasia of digits or ribs to complete amelia, often including scoliosis. Defects in NSDHL are the cause of CK syndrome (CKS). CKS is a disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus. Belongs to the 3-beta-HSD family.

Protein type: Membrane protein, integral; Lipid Metabolism - steroid biosynthesis; Oxidoreductase; Endoplasmic reticulum; EC 1.1.1.170

Chromosomal Location of Human Ortholog: Xq28

Cellular Component: endoplasmic reticulum; endoplasmic reticulum membrane; intracellular membrane-bound organelle; lipid particle

Molecular Function: C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity

Biological Process: cholesterol biosynthetic process

Disease: Ck Syndrome; Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
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