Anti-NSDHL Antibody (CAB16893)[KO Validated]

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SKU:
CAB16893
Product type:
Antibody
Reactivity:
Human
Mouse
Rat
Host Species:
Rabbit
Isotype:
IgG
Antibody Type:
Polyclonal Antibody
Research Area:
Metabolism
Frequently bought together:

Description

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Antibody Name:Anti-NSDHL Antibody [KO Validated]
Antibody SKU:CAB16893
Antibody Size:20uL, 50uL, 100uL
Application:WB IHC IF
Reactivity:Human, Mouse, Rat
Host Species:Rabbit
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 1-240 of human NSDHL (NP_057006.1).
Application:WB IHC IF
Recommended Dilution:WB 1:500 - 1:2000 IHC 1:50 - 1:200 IF 1:50 - 1:200
Reactivity:Human, Mouse, Rat
Positive Samples:
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 1-240 of human NSDHL (NP_057006.1).
Purification Method:Affinity purification
Storage Buffer:Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:IgG
Sequence:MEPA VSEP MRDQ VART HLTE DTPK VNAD IEKV NQNQ AKRC TVIG GSGF LGQH MVEQ LLAR GYAV NVFD IQQG FDNP QVRF FLGD LCSR QDLY PALK GVNT VFHC ASPP PSSN NKEL FYRV NYIG TKNV IETC KEAG VQKL ILTS SASV IFEG VDIK NGTE DLPY AMKP IDYY TETK ILQE RAVL GAND PEKN FLTT AIRP HGIF GPRD PQLV PILI EAAR NGKM KFVI GNGK NLVD FTFV
Gene ID:50814
Uniprot:Q15738
Cellular Location:
Calculated MW:41kDa
Observed MW:Refer to figures
Synonyms:NSDHL, H105E3, SDR31E1, XAP104
Background: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.
UniProt Protein Function: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.
UniProt Protein Details:

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

NCBI Summary: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 Code:Q15738
NCBI GenInfo Identifier:8488997
NCBI Gene ID:50814
NCBI Accession:Q15738.2
UniProt Secondary Accession:Q15738,O00344, D3DWT6,
UniProt Related Accession:Q15738
Molecular Weight:373
NCBI Full Name:Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
NCBI 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; protein H105e3; short chain dehydrogenase/reductase family 31E, member 1
UniProt Protein Name:Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
UniProt Synonym Protein Names:Protein H105e3
UniProt Gene Name:NSDHL  
UniProt Entry Name:NSDHL_HUMAN
Anti-NSDHL Antibody [KO Validated] (CAB16893)Western blot analysis of extracts from normal (control) and NSDHL knockout (KO) 293T cells, using NSDHL antibody (CAB16893) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 1s.
Anti-NSDHL Antibody [KO Validated] (CAB16893)Immunohistochemistry of paraffin-embedded Human liver cancer using [KO Validated] NSDHL Rabbit pAb (CAB16893) at dilution of 1:100 (40x lens).
Anti-NSDHL Antibody [KO Validated] (CAB16893)Immunohistochemistry of paraffin-embedded Mouse heart using [KO Validated] NSDHL Rabbit pAb (CAB16893) at dilution of 1:100 (40x lens).
Anti-NSDHL Antibody [KO Validated] (CAB16893)Immunofluorescence analysis of C6 cells using NSDHL antibody (CAB16893) at dilution of 1:100. Blue: DAPI for nuclear staining.
Anti-NSDHL Antibody [KO Validated] (CAB16893)Immunofluorescence analysis of U-2 OS cells using NSDHL antibody (CAB16893) at dilution of 1:100. Blue: DAPI for nuclear staining.

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