人 HRPT2 抗体对
01AB01050
Cell division cycle 73 (CDC73) is a gene that encodes the parafibromin protein, primarily located in the cell nucleus. Parafibromin functions as a tumor suppressor and is involved in regulating gene transcription as part of the Polymerase Associated Factor 1 complex (PAF1c). The protein plays a crucial role in transcriptional elongation, histone modifications, and mRNA 3' end processing by associating with cleavage and polyadenylation specificity factor (CPSF) and cleavage stimulation factor (CstF) complexes. CDC73 is essential for hematopoietic stem cell maintenance and function. Mutations in the CDC73 gene are associated with hyperparathyroidism-jaw tumor (HPT-JT) syndrome, an autosomal dominant disorder characterized by parathyroid tumors, fibro-osseous jaw tumors, and other neoplasms. Additionally, CDC73 mutations have been linked to parathyroid carcinomas, renal tumors, and other cancers.
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技术参数
- 靶点基因名
- CDC73
- 基因别名
- C1orf28; HRPT2
- 蛋白别名
- cell division cycle 73; HRPT2
- UniProt
- Q6P1J9
- 物种
- Human
产品详情
- 靶点名称
- HRPT2
- 蛋白名称
- cell division cycle 73
- 蛋白别名
- Parafibromin; Cell division cycle protein 73 homolog; Hyperparathyroidism 2 protein
- 靶点基因名
- CDC73
- 基因别名
- C1orf28; HRPT2
- UniProt
- Q6P1J9
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Cell division cycle 73 (CDC73) is a gene that encodes the parafibromin protein, primarily located in the cell nucleus. Parafibromin functions as a tumor suppressor and is involved in regulating gene transcription as part of the Polymerase Associated Factor 1 complex (PAF1c). The protein plays a crucial role in transcriptional elongation, histone modifications, and mRNA 3' end processing by associating with cleavage and polyadenylation specificity factor (CPSF) and cleavage stimulation factor (CstF) complexes. CDC73 is essential for hematopoietic stem cell maintenance and function. Mutations in the CDC73 gene are associated with hyperparathyroidism-jaw tumor (HPT-JT) syndrome, an autosomal dominant disorder characterized by parathyroid tumors, fibro-osseous jaw tumors, and other neoplasms. Additionally, CDC73 mutations have been linked to parathyroid carcinomas, renal tumors, and other cancers.