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.
[provided by RefSeq
Applications:Suitable for use in Immunofluorescence, Western Blot.
Other applications not tested.
Recommended Dilution:Optimal dilutions to be determined by the researcher.
AA Sequence:MDEEPERTKRWEGGYERTWEILKEDESGSLKATIEDILFKAKRKRVFEHHGQVRLGMMRHLYVVVDGSRTMEDQDLKPNRLTCTLKLLEYFVEEYFDQNPISQIGIIVTKSKRAEKLTELSGNPRKHITSLKKAVDMTCHGEPSLYNSLSIAMQTLKHMPGHTSREVLIIFSSLTTCDPSNIYDLIKTLKAAKIRVSVIGLSAEVRVCTVLARETGGTYHVILDESHYKELLTHHVSPPPASSSSECSLIRMGFPQHTIASLSDQDAKPSFSMAHLDGNTEPGLTLGGYFCPQCRAKYCELPVECKICGLTLVSAPHLARSYHHLFPLDAFQEIPLEEYNGERFCYGCQGELKDQHVYVCAVCQNVFCVDCDVFVHDSLHCCPGCIHKIPAPSGV
Storage and Stability:May be stored at 4℃ for short-term only.
Aliquot to avoid repeated freezing and thawing.
Store at -20℃.
Aliquots are stable for 12 months.
For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
仕様
Size：50ug
抗体種類：Pab
宿主：mouse
Source Antibody：human
Grade：Purified
Purity：Purified
Form：Supplied as a liquid in PBS, pH 7.4.
Specificity：Recognizes human GTF2H2.
Isotype：IgG
Calc Applications Abbrev：IF WB
Calc Crossreactivity：Hu
Immunogen：GTF2H2 (NP_001506.1, 1aa-395aa) full-length human protein.
