GTF2H2 / BTF2P44 antibody

Principal name

GTF2H2 / BTF2P44 antibody

Alternative names for GTF2H2 / BTF2P44 antibody

BTF2-p44, TFIIH, General transcription factor IIH subunit 2, General transcription factor IIH polypeptide 2, TFIIH basal transcription factor complex p44 subunit, Basic transcription factor 2 44 kDa subunit

SwissProt ID

A0JN27 (Rat), Q13888 (Human), Q2TBV5 (Bovin), Q9JIB4 (Mouse)

Gene ID

2966 (GTF2H2), 23894 (Gtf2h2), 294693

Available reactivities

Bov (Bovine), Can (Canine), Chk (Chicken), Hu (Human), Ms (Mouse), Rt (Rat), Ze (Zebrafish), African clawed frog, Eq (Equine), GP (Guinea Pig), Rb (Rabbit)

Available hosts

Rabbit, Mouse

Available applications

ELISA (detection) (E(detection)), Immunocytochemistry/Immunofluorescence (ICC/IF), Western blot / Immunoblot (WB), Immunoprecipitation (IP), Paraffin Sections (P), Enzyme Immunoassay (E)

Background of GTF2H2 / BTF2P44 antibody

GTF2H2 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. GTF2H2 is 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.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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Entrez Gene record to access additional publications. PRIMARYREFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-15 BM083743.1 1-15 16-1121 AF078847.1 1-1106 1122-1537 BG283896.1 128-543 1538-1951 AC044797.5 132110-132523 c

General readings

Ren,P., (2007) Am. J. Respir. Crit. Care Med. 175 (11), 1151-1157

2 Item(s)

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CRISPR

Catalog No. Species Donor Vector  

GTF2H2 - human gene knockout kit via CRISPR

GTF2H2 - human gene knockout kit via CRISPR Human mBFP-Neo
1 kit / €1,290.00
  OriGene Technologies, Inc.

Gtf2h2 - mouse gene knockout kit via CRISPR

Gtf2h2 - mouse gene knockout kit via CRISPR Mouse mBFP-Neo
1 kit / €1,290.00
  OriGene Technologies, Inc.

2 Item(s)

per page
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