Molecular weight (DA)
60kD
Immunogen
Synthesized peptide derived from human Parafibromin. at AA range: 51-100
Specificity
This antibody detects endogenous levels of Parafibromin
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
WB 1:500-2000, ELISA 1:10000-20000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Background
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],
Function
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
Gene Name
CDC73 C1orf28 HRPT2
Protein name
Parafibromin
Abbreviation
Parafibromin
Other name
Parafibromin (Cell division cycle protein 73 homolog) (Hyperparathyroidism 2 protein)
Human protein sequence Database
Q6P1J9
Mouse protein sequence database
Q8JZM7
Rat protein sequence database
Cellular localization
Nucleus .
Tissue expression
Found in adrenal and parathyroid glands, kidney and heart.
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