Mutations in KCa2.3 are suspected to be a possible underlying cause for several neurological disorders, including schizophrenia, bipolar disorder, Alzheimer’s disease, anorexia nervosa and ataxia[6][7][8] as well as myotonic muscular dystrophy.
Tags: Integral membrane proteins, Ion channels, Membrane proteins, Proteins, Transmembrane proteins
SK3 is a small-conductance calcium-activated potassium channel partly responsible for the calcium-dependent after hyperpolarisation current (IAHP). It belongs to a family of channels known as small-conductance potassium channels, which consists of three members – SK1, SK2 and SK3 (KCNN1, 2 and 3 respectively), which share a 60-70% sequence identity.[1] These channels have acquired a number of alternative names, however a NC-IUPHAR has recently achieved consensus on the best names, KCa2.1 (SK1), KCa2.2 (SK2) and KCa2.3 (SK3).[2] Small conductance channels are responsible for the medium and possibly the slow components of the IAHP.
Zellweger's syndrome is characterized by defects in peroxisome biogenesis resulting in the reduced production of plasmalogen synthesis.
Properdin was discovered in 1954 by Dr. Louis Pillemer of the Institute of Pathology (now the Department of Pathology at Case Western Reserve University).
The SK channel family contains 4 members - SK1, SK2, SK3, and SK4.
KCa2.3 contains 6 transmembrane domains, a pore-forming region, and intracellular N- and C- termini[3][1] and is readily blocked by apamin. The gene for KCa2.3, KCNN3, is located on chromosome 1q21.
Several members of the S-100 protein family are useful as markers for certain tumors and epidermal differentiation. It can be found in melanomas, 50% of malignant peripheral nerve sheath tumors, and clear cell sarcomas. S100 proteins have been used in the lab as cell markers for anatomic pathology.
All SK channels can be pharmacologically blocked by quaternary ammonium salts of a plant-derived neurotoxin bicuculline.[6] In addition, SK channels(SK1-SK3) are sensitive to blockade by the bee venom apamin, [7] but SK4 (IK) is not. and the scorpion venom tamapin.[8]
In anatomic pathology, pathologists make use of CD56 immunohistochemistry to recognize certain tumors. Normal cells that stain positively for CD56 include NK cells, activated T cells, the brain and cerebellum, and neuroendocrine tissues. Tumors that are CD56-positive are myeloma, myeloid leukemia, neuroendocrine tumors, Wilms' tumor, adult neuroblastoma, NK/T cell lymphomas, pancreatic acinar cell carcinoma, pheochromocytoma, and small cell lung carcinoma. (Ewing's sarcoma / PNET is CD56-
A deficiency is associated with Krabbe disease.
Desmogleins are targeted in the autoimmune disease pemphigus.
It is believed that the vasoconstriction caused by thromboxanes plays a role in Prinzmetal's angina.
Mutations of its encoding gene can cause autosomal recessive polycystic kidney disease
Mutations in the HNF4-? gene have been linked to maturity onset diabetes of the young (MODY).[7]
The peroxisomal disorder acatalasia is due to a deficiency in the function of catalase.
Mutations in Cbfa1/Runx2 are associated with the disease Cleidocranial dysostosis.