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, Jul 2008]

Basic transcription factor 2 44 kDa subunit;
BTF2;
BTF2 p44;
BTF2-p44;
BTF2P44;
General transcription factor IIH;
General transcription factor IIH polypeptide 2;
General transcription factor IIH subunit 2;
General transcription factor IIH, polypeptide 2, 44kDa;
Gtf2h2;
MGC102806;
p44;
T BTF2P44;
T-BTF2P44;
TF2H2_HUMAN;
TFIIH;
TFIIH basal transcription factor complex p44 subunit.

Human,Mouse,Rat,Pig,Cow,Horse,Sheep

IHC,IF,ICC

IHC 1:100-500
IF 1:100-500
ICC 1:100-1:400

44kD

2966

Q13888

https://www.uniprot.org/uniprotkb/Q13888

Nucleus.

Widely expressed, with higher expression in skeletal muscle.

KLH conjugated synthetic peptide derived from human GTF2H2

Rabbit

Polyclonal

IgG

affinity purified by Protein A

Liquid

0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.

Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.