产品说明
一般描述
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)
免疫原
GTF2H2 (NP_001506.1, 1 a.a. ~ 395 a.a) full-length human protein.
Sequence
MDEEPERTKRWEGGYERTWEILKEDESGSLKATIEDILFKAKRKRVFEHHGQVRLGMMRHLYVVVDGSRTMEDQDLKPNRLTCTLKLLEYFVEEYFDQNPISQIGIIVTKSKRAEKLTELSGNPRKHITSLKKAVDMTCHGEPSLYNSLSIAMQTLKHMPGHTSREVLIIFSSLTTCDPSNIYDLIKTLKAAKIRVSVIGLSAEVRVCTVLARETGGTYHVILDESHYKELLTHHVSPPPASSSSECSLIRMGFPQHTIASLSDQDAKPSFSMAHLDGNTEPGLTLGGYFCPQCRAKYCELPVECKICGLTLVSAPHLARSYHHLFPLDAFQEIPLEEYNGERFCYGCQGELKDQHVYVCAVCQNVFCVDCDVFVHDSLHCCPGCIHKIPAPSGV
外形
Solution in phosphate buffered saline, pH 7.4
基本信息
| NACRES | NA.41 |
产品性质
| 质量水平 | 100 |
| 生物来源 | mouse |
| 偶联物 | unconjugated |
| 抗体形式 | purified immunoglobulin |
| antibody product type | primary antibodies |
| 克隆 | polyclonal |
| 形式 | buffered aqueous solution |
| 分子量 | antigen 44.4 kDa |
| species reactivity | human |
| technique(s) | indirect immunofluorescence: suitable western blot: 1 μg/mL |
| NCBI登记号 | NM_001515.2 |
| UniProt登记号 | Q13888 |
| 运输 | dry ice |
| 储存温度 | −20℃ |
| Gene Information | human ... GTF2H2(2966) |
安全信息
| 储存分类代码 | 12 - Non Combustible Liquids |
| WGK | WGK 3 |
| 闪点(F) | Not applicable |
| 闪点(C) | Not applicable |
