mProX™ Human KCNB1 Stable Cell Line
- Product Category:
- Membrane Protein Stable Cell Lines
- Subcategory:
- Ion Channel Cell Lines
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Published Data
Fig.1 Functional characterization of KCNB1-WT and KCNB1-I199F
After expression, KCNB1-I199F is transported to the cell surface. Cell-surface biotinylation of CHO-K1 cells transfected with either wild-type (WT) or mutant KV2.1 was used to evaluate cell-surface expression. Total cell lysates contained calnexin, but surface fraction did not; this suggests that extracellular proteins are selectively biotinylated.
Ref: Calhoun, Jeffrey D., et al. "Characterization of a KCNB1 variant associated with autism, intellectual disability, and epilepsy." Neurology Genetics 3.6 (2017).
Pubmed: 29264390
DOI: 10.1212/NXG.0000000000000198
Research Highlights
A diverse range of debilitating neurodevelopmental illnesses are together referred to as developmental and epileptic encephalopathies, or DEEs. Patients with early-onset DEE have recently been found to have variations in KCNB1.
Bar, Claire, et al. "Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature." Human mutation 41.1 (2020): 69-80.
Pubmed:
31513310
DOI:
10.1002/humu.23915
When treating new patients, doctors will benefit from knowing the spectrum of symptoms seen in patients with a missense or loss-of-function mutation in KCNB1 and how these symptoms correspond with the kind of variant.
De Kovel, Carolien GF, et al. "Neurodevelopmental disorders caused by de novo variants in KCNB1 genotypes and phenotypes." JAMA neurology 74.10 (2017): 1228-1236.
Pubmed:
28806457
DOI:
10.1001/jamaneurol.2017.1714
