Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating (NSDHL) Recombinant Protein | NSDHL recombinant protein
Recombinant Human Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating (NSDHL)
Repeated freezing and thawing is not recommended. Store working aliquots at 4 degree C for up to one week.
NCBI and Uniprot Product Information
NCBI 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, Jul 2008]
Uniprot Description
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: Endoplasmic reticulum; Membrane protein, integral; Lipid Metabolism - steroid biosynthesis; EC 1.1.1.170; Oxidoreductase
Chromosomal Location of Human Ortholog: Xq28
Cellular Component: endoplasmic reticulum; endoplasmic reticulum membrane; integral to membrane; intracellular membrane-bound organelle; lipid particle
Molecular Function: 3-beta-hydroxy-delta5-steroid dehydrogenase activity; C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity; sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity
Biological Process: cholesterol biosynthetic process; hair follicle development; smoothened signaling pathway
Disease: Ck Syndrome; Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Research Articles on NSDHL
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Product Notes
The NSDHL nsdhl (Catalog #AAA7023667) is a Recombinant Protein produced from Cell Free Expression and is intended for research purposes only. The product is available for immediate purchase. The immunogen sequence is 1-373aa; full length protein. This is a recombinant transmembrane protein expressed in a cell-free expression system. Researchers should empirically determine the suitability of the NSDHL nsdhl for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. The amino acid sequence is listed below: MEPAVSEPMR DQVARTHLTE DTPKVNADIE KVNQNQAKRC TVIGGSGFLG QHMVEQLLAR GYAVNVFDIQ QGFDNPQVRF FLGDLCSRQD LYPALKGVNT VFHCASPPPS SNNKELFYRV NYIGTKNVIE TCKEAGVQKL ILTSSASVIF EGVDIKNGTE DLPYAMKPID YYTETKILQE RAVLGANDPE KNFLTTAIRP HGIFGPRDPQ LVPILIEAAR NGKMKFVIGN GKNLVDFTFV ENVVHGHILA AEQLSRDSTL GGKAFHITND EPIPFWTFLS RILTGLNYEA PKYHIPYWVA YYLALLLSLL VMVISPVIQL QPTFTPMRVA LAGTFHYYSC ERAKKAMGYQ PLVTMDDAME RTVQSFRHLR RVK. It is sometimes possible for the material contained within the vial of "Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating (NSDHL), Recombinant Protein" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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