Anti-Human GTF2H2

Product Description

* 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. [NCBI Entrez Gene Summary]

*Quality of Control

Data Sheet BMR00302 (PDF File)

Western blot protocol (PDF File)

Caution must be taken to avoid contact with skin or eyes. In such a case, rinse thoroughly at once with water. Do not ingest, inhale, or swallow. Seek medical attention immediately. Wear appropriate protective clothing such as laboratory overalls, safety glasses and gloves. It is strongly advised that this product should be handled by people who have been well trained in laboratory techniques and that it is handled with care pursuant to the principles of good laboratory practice. All chemicals are deemed potentially harmful. The vial is prone to fall over. Use caution, especially when the lid is off .

FOR RESEARCH USE ONLY, NOT FOR USE IN DIAGNOSTIC PROCEDURES.

Manufactured by : Bio Matrix Research, Inc.