NSDHL recombinant protein

Recombinant Human NSDHL

Cat. Num. AAA7613411

• Gene Names: NSDHL; H105E3; XAP104; SDR31E1
• Applications: Western Blot, ELISA
• Purity: Greater than 85% by SDS-PAGE gel analyses
• Synonyms: NSDHL; Recombinant Human NSDHL; H105E3; Protein H105e3; SDR31E1; XAP104; NSDHL recombinant protein

• Host: E Coli
• Purity/Purification: Greater than 85% by SDS-PAGE gel analyses
• Form/Format: Lyophilized from a 0.2um filtered solution in PBS with 5% trehalose, pH7.4
• Sequence Positions: 31-267

• Applicable Applications for NSDHL recombinant protein: Western Blot (WB), ELISA (EIA)
• Species: Human
• Tag: N-terminal His-IF2DI Tag
• Reconstitution: Centrifuge the vial at 10,000rpm for 1 minute, reconstitute at 200ug/ml in sterile distilled water
• Preparation and Storage: Store at -20 degree C for 12 months as lyophilized; 2-8 degree C for 1 month under sterile conditions after reconstitution

NCBI and Uniprot Product Information

• NCBI GI #: 8488997
• NCBI GeneID: 50814
• UniProt Accession #: Q15738; O00344; D3DWT6
• Molecular Weight: 373
• 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; protein H105e3; short chain dehydrogenase/reductase family 31E, member 1
• 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