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NHS-SS-Biotin 1g

NHS-SS-Biotin 1g is available 1 time from Ape labs

A8006-1000 | NHS-SS-Biotin 1g size: 1g | 1098.73 USD

Catalog number A8006-1000
Supplier Ape
Price1098.73 USD
Size 1g
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
PubMedkey functions in the regulation of eye, tooth, brain, and craniofacial development
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.
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.
mutations in NHS are the common cause of congenital cataract
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.
This product has a molecular weight of g/mol 575.72
CAS number 142439-92-7
This substance is also known as NHS-SS-Biotin 1g
The molecular formula is C22H33N5O7S3
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-SS
Short name NHS-SS- 1g
Label Biotin
Alternative name NHS-SS-biotinilated 1g
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