基因名称(Gene Name)
CDC73 C1orf28 HRPT2
免疫原
Synthesized peptide derived from human Parafibromin. at AA range: 51-100
特异性
This antibody detects endogenous levels of Parafibromin
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
其他名称
Parafibromin (Cell division cycle protein 73 homolog) (Hyperparathyroidism 2 protein)
背景
This gene encodes a tumor suppressor that is involved in transcriptional and post-transcriptional control pathways. The protein is a component of the the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A and with a histone methyltransferase complex. This protein appears to facilitate the association of 3' mRNA processing factors with actively-transcribed chromatin. Mutations in this gene have been linked to hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, and parathyroid carcinoma. [provided by RefSeq, Jul 2009],
功能
disease:Defects in CDC73 are a cause of familial isolated hyperparathyroidism (FIHP) [MIM:145000]; also known as hyperparathyroidism type 1 (HRPT1). FIHP is an autosomal dominant disorder characterized by hypercalcemia, elevated parathyroid hormone (PTH) levels, and uniglandular or multiglandular parathyroid tumors.,disease:Defects in CDC73 are a cause of parathyroid carcinoma [MIM:608266]. These cancers characteristically result in more profound clinical manifestations of hyperparathyroidism than do parathyroid adenomas, the most frequent cause of primary hyperparathyroidism. Early en bloc resection of the primary tumor is the only curative treatment.,disease:Defects in CDC73 are the cause of hyperparathyroidism-jaw tumor syndrome (HPT-JT) [MIM:145001]; also known as hyperparathyroidism type 2 (HRPT2) or familial primary hyperparathyroidism with multiple ossifying jaw fibromas. HPT-JT i
