SAB1401114

Anti-DHCR7 antibody produced in rabbit

purified immunoglobulin, buffered aqueous solution

• Synonyme(s) : SLOS
• Code UNSPSC : 12352203
• Nomenclature NACRES : NA.41

Propriétés

• Source biologique: rabbit
• Conjugué: unconjugated
• Forme d'anticorps: purified immunoglobulin
• Type de produit anticorps: primary antibodies
• Clone: polyclonal
• Forme: buffered aqueous solution
• Espèces réactives: human, rat, mouse
• Technique(s): western blot: 1 μg/mL
• Numéro d'accès NCBI: NM_001360.1
• Numéro d'accès UniProt: Q9UBM7
• Conditions d'expédition: dry ice
• Température de stockage: −20°C
• Modification post-traductionnelle de la cible: unmodified
• Informations sur le gène: human ... DHCR7(1717)

Description

Description générale

This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by mental retardation, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein

Immunogène

DHCR7 (NP_001351.1, 1 a.a. ~ 475 a.a) full-length human protein.

Sequence
MAAKLQPNIPKAKSLDGVTNDRTASQGQWGRAWEVDWFSLASVIFLLLFAPFIVYYFIMACDQYSCALTGPVVDIVTGHARLSDIWAKTPPITRKAAQLYTLWVTFQVLLYTSLPDFCHKFLPGYVGGIQEGAVTPAGVVNKYQINGLQAWLLTHLLWFANAHLLSWFSPTIIFDNWIPLLWCANILGYAVSTFAMVKGYFFPTSARDCKFTGNFFYNYMMGIEFNPRIGKWFDFKLFFNGRPGIVAWTLINLSFAAKQRELHSHVTNAMVLVNVLQAIYVIDFFWNETWYLKTIDICHDHFGWYLGWGDCVWLPYLYTLQGLYLVYHPVQLSTPHAVGVLLLGLVGYYIFRVANHQKDLFRRTDGRCLIWGRKPKVIECSYTSADGQRHHSKLLVSGFWGVARHFNYVGDLMGSLAYCLACGGGHLLPYFYIIYMAILLTHRCLRDEHRCASKYGRDWERYTAAVPYRLLPGIF

Forme physique

Solution in phosphate buffered saline, pH 7.4

Clause de non-responsabilité

Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.

Informations sur la sécurité

• Code de la classe de stockage: 10 - Combustible liquids
• Point d'éclair (°F): Not applicable
• Point d'éclair (°C): Not applicable