Rabbit anti-Human KCNH1 monoclonal antibody for WB
KCNH1 (Potassium Voltage-Gated Channel Subfamily H Member 1) is a Protein Coding gene. Diseases associated with KCNH1 include temple-baraitser syndrome and zimmermann-laband syndrome 1. Among its related pathways are Transmission across Chemical Synapses and Potassium Channels. GO annotations related to this gene include signal transducer activity and ion channel activity. An important paralog of this gene is KCNH8. Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit of a voltage-gated non-inactivating delayed rectifier potassium channel. It is activated at the onset of myoblast differentiation. The gene is highly expressed in brain and in myoblasts. Overexpression of the gene may confer a growth advantage to cancer cells and favor tumor cell proliferation. Alternative splicing of this gene results in two transcript variants encoding distinct isoforms.
This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and regulate alternative splicing, polyadenylation, and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNAs which have guanosine-rich sequences. This protein is very similar to the family member hnRPH. Multiple alternatively spliced variants, encoding the same protein, have been identified. Temple-Baraitser syndrome (TMBTS) [MIM:611816]: A developmental disorder characterized by intellectual disability, epilepsy, hypoplasia or aplasia of the thumb and great toe nails, and broadening and/or elongation of the thumbs and halluces, which have a tubular aspect. Some patients show facial dysmorphism. Note=The disease is caused by mutations affecting the gene represented in this entry. Zimmermann-Laband syndrome 1 (ZLS1) [MIM:135500]: A disorder characterized by gingival fibromatosis, dysplastic or absent nails, finger abnormalities, hepatosplenomegaly, and abnormalities of the cartilage of the nose and/or ears. Potassium voltage-gated channel subfamily H member 1 is a protein that in humans is encoded by the KCNH1 gene. 0The function about KCNH1 antigen include calmodulin binding; delayed rectifier potassium channel activity; protein binding; two-component sensor activity; voltage-gated ion channel activity.
Neuronal System, organism-specific biosystem; Potassium Channels, organism-specific biosystem; Voltage gated Potassium channels, organism-specific biosystem.
Wulff, H; Castle, NA; et al. Voltage-gated potassium channels as therapeutic targets. NATURE REVIEWS DRUG DISCOVERY 8:982-1001(2009).
Custom Antibody Labeling
We offer labeled antibodies using our catalogue antibody products and a broad range of intensely fluorescent dyes and labels including HRP, biotin, ALP, Alexa Fluor® dyes, DyLight® Fluor dyes, R-phycoerythrin (R-PE), at scales from less than 100 μg up to 1 g of IgG antibody.