| Structural highlights
Disease
KCNK9_HUMAN Intellectual deficit, Birk-Barel type. Birk-Barel mental retardation dysmorphism syndrome (BIBAS) [MIM:612292: A syndrome characterized by mental retardation, hypotonia, hyperactivity, and facial dysmorphism. Note=The disease is caused by mutations affecting the gene represented in this entry.[1]
Function
KCNK9_HUMAN pH-dependent, voltage-insensitive, background potassium channel protein.[2] [3]
References
- ↑ Barel O, Shalev SA, Ofir R, Cohen A, Zlotogora J, Shorer Z, Mazor G, Finer G, Khateeb S, Zilberberg N, Birk OS. Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9. Am J Hum Genet. 2008 Aug;83(2):193-9. PMID:18678320 doi:S0002-9297(08)00410-2
- ↑ Chapman CG, Meadows HJ, Godden RJ, Campbell DA, Duckworth M, Kelsell RE, Murdock PR, Randall AD, Rennie GI, Gloger IS. Cloning, localisation and functional expression of a novel human, cerebellum specific, two pore domain potassium channel. Brain Res Mol Brain Res. 2000 Oct 20;82(1-2):74-83. PMID:11042359
- ↑ Vega-Saenz de Miera E, Lau DH, Zhadina M, Pountney D, Coetzee WA, Rudy B. KT3.2 and KT3.3, two novel human two-pore K(+) channels closely related to TASK-1. J Neurophysiol. 2001 Jul;86(1):130-42. PMID:11431495
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