Anti-NSDHL Antibody (CAB19896)[KO Validated]
- SKU:
- CAB19896
- Product type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Research Area:
- Metabolism
Frequently bought together:
Description
抗体名: | Anti-NSDHL Antibody [KO Validated] |
抗体コード: | CAB19896 |
抗体サイズ: | 20uL, 50 uL |
申し込み: | WB IF |
反応性: | Human, Rat |
宿主種: | Rabbit |
免疫原: | Recombinant protein of human NSDHL. |
申し込み: | WB IF |
推奨希釈: | WB 1:500 - 1:2000 IF 1:50 - 1:200 |
反応性: | Human, Rat |
ポジティブサンプル: | 293T |
免疫原: | Recombinant protein of human NSDHL. |
精製方法: | Affinity purification |
ストレージバッファ: | Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
アイソタイプ: | IgG |
順序: | Email for sequence |
遺伝子ID: | 50814 |
Uniprot: | Q15738 |
セルラーロケーション: | |
計算された分子量: | 41kDa |
観察された分子量: | 38KDa |
同義語: | NSDHL, H105E3, SDR31E1, XAP104 |
バックグラウンド: | 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 |