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Rabbit Anti-Phospho-p57 Kip2 (Thr310)/FITC Conjugated antibody
background:
This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated in sporadic cancers and Beckwith-Wiedemann syndorome, suggesting that this gene is a tumor suppressor candidate. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2010].
Function:
Potent tight-binding inhibitor of several G1 cyclin/CDK complexes (cyclin E-CDK2, cyclin D2-CDK4, and cyclin A-CDK2) and, to lesser extent, of the mitotic cyclin B-CDC2. Negative regulator of cell proliferation. May play a role in maintenance of the non-proliferative state throughout life.
Subunit:
Interacts with PCNA.
Subcellular Location:
Nucleus.
Tissue Specificity:
Expressed in the heart, brain, lung, skeletal muscle, kidney, pancreas and testis. Expressed in the eye. High levels are seen in the placenta while low levels are seen in the liver.
DISEASE:
Defects in CDKN1C are a cause of Beckwith-Wiedemann syndrome (BWS) [MIM:130650]. BWS is a genetically heterogeneous disorder characterized by anterior abdominal wall defects including exomphalos (omphalocele), pre- and postnatal overgrowth, and macroglossia. Additional less frequent complications include specific developmental defects and a predisposition to embryonal tumors.
Defects in CDKN1C are the cause of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE) [MIM:614732]. A rare condition characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies. Patients with this condition may present shortly after birth with severe adrenal insufficiency, which can be life-threatening if not recognized early and commenced on steroid replacement therapy. Other reported features in this condition include, hypercalciuria and/or hypercalcemia, craniosynostosis, cleft palate, and scoliosis.
Note=Defects in CDKN1C are involved in tumor formation.
Similarity:
Belongs to the CDI family.
Database links:
Entrez Gene: 1028 Human
Entrez Gene: 12577 Mouse
Entrez Gene: 29260 Rat
Omim: 600856 Human
SwissProt: P49918 Human
SwissProt: P49919 Mouse
SwissProt: E9PTV7 Rat
SwissProt: Q69DC0 Rat
Unigene: 106070 Human
Unigene: 168789 Mouse
Unigene: 162507 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
p57 Kip-2调控周期蛋白依赖蛋白激酶、G1 期, 是细胞周期蛋白依赖性激酶(CDK)的抑制蛋白。它通过调控细胞周期进程，参与肿瘤细胞的增殖、分化与凋亡。在多种肿瘤中均发现p57,kip2表达异常，在某些肿瘤中是一种独立的预后因素，与肿瘤的发生、发展及预后有着密切关系。
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