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Biotin-nhs

Biotin-nhs is available 1 time from Sfc labs

SFC-27416 | Biotin-nhs size: 1 EA | Place ask USD

Catalog number SFC-27416
Supplier SFC
PricePlace ask USD
Size 1 EA
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1. Gene info
Identity40403
Long gene name NHS antisense RNA 1
Synonyms gene name
  • NHS antisense RNA 1 (non-protein coding)
LocusXp22.13
Discovery year 2011-07-29
Havana BLAST/BLATOTTHUMG00000021203
MeSH Data
NameBiotin
Concept
Registry number:6SO6U10H04
Scope note:A water-soluble, enzyme co-factor present in minute amounts in every living cell. It occurs mainly bound to proteins or polypeptides and is abundant in liver, kidney, pancreas, yeast, and milk.
CASN1 number:1H-Thieno(3,4-d)imidazole-4-pentanoic acid, hexahydro-2-oxo-, (3aS-(3aalpha,4beta,6aalpha))-
Tree numbers
  • D03.383.129.308.080
  • D08.211.096
Additional information
PubMedX-linked families with cataract should be carefully examined for both ocular and nonocular features, to exclude Nance-Horan syndrome.
identification of the frequency and distribution of NHS gene mutations and comparison of genotype with Nance-Horan phenotype in five North American NHS families; this report extends the number of unique identified NHS mutations to 14
This study aimed to identify the causative mutations in new patients diagnosed with Nance-Horan syndrome and to investigate the effect of mutations on subcellular localization of the NHS-A protein.
Four novel protein truncation mutations and a large deletion of the NHS gene lead to Nance-Horan syndrome.
these data identify NHS as a new regulator of actin remodelling.
Direct sequencing of NHS sequences in a Tunisian family identified the first missense mutation (P551S) and a reported SNP-polymorphism (L1319F) in exon 6, a reported UTR-SNP (c.7422 C>T) and a novel one (c.8239 T>A) in exon 8.
Lens opacities centered around the posterior Y-suture in the context of certain facial features were sensitive and specific clinical signs of carrier status for NHS mutation in asymptomatic females.
A nonsense mutation c.322G>T (E108X) co-segregated with the disease in a family. Multiple sequence alignments showed that codon 108, where the mutation (c.322G>T) occurred, was located within a phylogenetically conserved region.
Our findings broaden the spectrum of NHS mutations causing Nance-Horan syndrome and phenotypic spectrum of the disease in Chinese patients.
Results revealed a novel splice site mutation (NM_198270: c.1045 + 2T > A) in the 5' consensus donor site of intron 4 in the NHS gene in a Chinese family. This mutation led to aberrantly spliced mRNA, which is likely to result in a truncated NHS protein.
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CAS number 35013-72-0
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Properties Biotin conjugates can be detected by horseradish peroxidase, alkaline phosphatase substrates or anti biotin conjugated antibodies. Avidin and Streptavidin bind to the small biotin and are couple to HRP or AP for ELISA. To break the streptavidin Biotin bond we suggest to use a 6 molar guanidine HCl solution with acidity of pH 1.6.
Conjugation Biotinylated
Gene targetnhs
Short name -nhs
Label Biotin
Alternative name biotinilated-nhs
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