Rabbit anti-Human, Mouse NSDHL Polyclonal Antibody | anti-NSDHL antibody

NSDHL (Sterol-4-alpha-carboxylate 3-dehydrogenase, Decarboxylating, Protein H105e3, H105E3, XAP104, SDR31E1) (HRP)

Cat. Num. AAA6387594

• Gene Names: NSDHL; H105E3; XAP104; SDR31E1
• Reactivity: Human, Mouse
• Applications: Western Blot
• Purity: Purified by Protein A Affinity Chromatography.
• Synonyms: NSDHL; Polyclonal Antibody; NSDHL (Sterol-4-alpha-carboxylate 3-dehydrogenase; Decarboxylating; Protein H105e3; H105E3; XAP104; SDR31E1) (HRP); anti-NSDHL antibody

• Host: Rabbit
• Reactivity: Human, Mouse
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: Recognizes human NSDHL. Species Crossreactivity: mouse.
• Purity/Purification: Purified by Protein A Affinity Chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with Horseradish Peroxidase (HRP).
• Sequence Length: 373

• Applicable Applications for anti-NSDHL antibody: Western Blot (WB)
• Application Notes: Applications are based on unconjugated antibody.
• Immunogen: Full length human NSDHL, aa1-373 (NP_057006.1).
• Immunogen Sequence: MEPAVSEPMRDQVARTHLTEDTPKVNADIEKVNQNQAKRCTVIGGSGFLGQHMVEQLLARGYAVNVFDIQQGFDNPQVRFFLGDLCSRQDLYPALKGVNTVFHCASPPPSSNNKELFYRVNYIGTKNVIETCKEAGVQKLILTSSASVIFEGVDIKNGTEDLPYAMKPIDYYTETKILQERAVLGANDPEKNFLTTAIRPHGIFGPRDPQLVPILIEAARNGKMKFVIGNGKNLVDFTFVENVVHGHILAAEQLSRDSTLGGKAFHITNDEPIPFWTFLSRILTGLNYEAPKYHIPYWVAYYLALLLSLLVMVISPVIQLQPTFTPMRVALAGTFHYYSCERAKKAMGYQPLVTMDDAMERTVQSFRHLRRVK
• Conjugate: HRP
• Note: Preservative Free
• Preparation and Storage: Store product at 4 degree C if to be used immediately within two weeks. For long-term storage, aliquot to avoid repeated freezing and thawing and store at -20 degree C. Aliquots are stable at -20 degree C for 12 months after receipt. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. Note: Sodium azide is a potent inhibitor of peroxidase and should not be added to HRP conjugates. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Western Blot (WB)

(NSDHL rabbit polyclonal antibody. Western Blot analysis of NSDHL expression in mouse lung.)

Western Blot (WB)

(NSDHL rabbit polyclonal antibody. Western Blot analysis of NSDHL expression in A-431.)

Western Blot (WB)

(Western Blot analysis of NSDHL expression in transfected 293T cell line by NSDHL polyclonal antibody. Lane 1: NSDHL transfected lysate (41.9kD). Lane 2: Non-transfected lysate.)

Product Categories/Family for anti-NSDHL antibody

Antibodies; Enzymes; Dehydrogenase

NCBI and Uniprot Product Information

• NCBI GI #: 8393516
• NCBI GeneID: 50814
• NCBI Accession #: NP_057006.1
• NCBI GenBank Nucleotide #: NM_015922.1
• UniProt Accession #: Q15738
• 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
• NCBI Official Synonym Symbols: H105E3; XAP104; SDR31E1
• NCBI Protein Information: sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
• UniProt Protein Name: Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
• UniProt Gene Name: NSDHL
• UniProt Synonym Gene Names: H105E3
• UniProt Entry Name: NSDHL_HUMAN

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: 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 membrane; intracellular membrane-bound organelle; endoplasmic reticulum; integral to membrane; lipid particle

Molecular Function: 3-beta-hydroxy-delta5-steroid dehydrogenase activity; sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity

Biological Process: smoothened signaling pathway; hair follicle development; cholesterol biosynthetic process

Disease: Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects; Ck Syndrome