GTF2H2 Rabbit pAb (APR25722N)
Product Specifications
Background
This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is within the telomeric copy of the duplication. Deletion of this gene sometimes accompanies deletion of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients but it is unclear if deletion of this gene contributes to the SMA phenotype. This gene encodes the 44 kDa subunit of RNA polymerase II transcription initiation factor IIH which is involved in basal transcription and nucleotide excision repair. Transcript variants for this gene have been described, but their full length nature has not been determined. A second copy of this gene within the centromeric copy of the duplication has been described in the literature. It is reported to be different by either two or four base pairs; however, no sequence data is currently available for the centromeric copy of the gene.
Synonyms
GTF2H2; BTF2; BTF2P44; T-BTF2P44; TFIIH; p44
Gene ID
2966
UniProt
Q13888
Cellular Locus
Nucleus
Dilution
WB 1:500 - 1:2000 IHC 1:50 - 1:200
Form
Liquid
Buffer
Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Molecular Weight
Calculated MW: 44kDa Observed MW: 44kDa
Storage Conditions
Store at 4°C short term. For long-term storage, aliquot and store at -20°C or below. Stable for 12 months at -20°C. Avoid repeated freeze-thaw cycles.
Overview
We constantly strive to ensure we provide our customers with the best antibodies. As a result of this work we offer this antibody in purified format. We are in the process of updating our datasheets. If you have any questions regarding this update, please feel free to contact our technical support team. This product is a high quality GTF2H2 Rabbit pAb (APR25722N) .
Gene ID URL
https://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=2966
Uniprot URL
https://www.uniprot.org/uniprot/Q13888
AA Sequence
MDEEPERTKRWEGGYERTWEILKEDESGSLKATIEDILFKAKRKRVFEHHGQVRLGMMRHLYVVVDGSRTMEDQDLKPNRLTCTLKLLEYFVEEYFDQNP
Available Sizes
Curated Selection
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