ATP-sensitive inward rectifier potassium channel 8 [Homo sapiens]

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A novel mutation in the KCNJ8 gene encoding the Kir6.1 subunit of an ATP-sensitive potassium channel in a Japanese patient with Cantú syndrome. [J Eur Acad Dermatol Venereol. ...]
A novel mutation in the KCNJ8 gene encoding the Kir6.1 subunit of an ATP-sensitive potassium channel in a Japanese patient with Cantú syndrome.
Chihara M, Asahina A, Itoh M. J Eur Acad Dermatol Venereol. 2020 Sep; 34(9):e476-e478. Epub 2020 May 6.
Cantú syndrome resulting from activating mutation in the KCNJ8 gene. [Hum Mutat. 2014]
Cantú syndrome resulting from activating mutation in the KCNJ8 gene.
Cooper PE, Reutter H, Woelfle J, Engels H, Grange DK, van Haaften G, van Bon BW, Hoischen A, Nichols CG. Hum Mutat. 2014 Jul; 35(7):809-13. Epub 2014 May 6.
Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition. [Eur J Med Genet. 2013]
Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.
Brownstein CA, Towne MC, Luquette LJ, Harris DJ, Marinakis NS, Meinecke P, Kutsche K, Campeau PM, Yu TW, Margulies DM, et al. Eur J Med Genet. 2013 Dec; 56(12):678-82. Epub 2013 Oct 28.

RefSeq genomic sequence
See the genomic reference sequence for the KCNJ8 gene (NG_041794.1).
RefSeq mRNA
See reference mRNA sequence for the KCNJ8 gene (NM_004982.4).

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NP_004973 [Domain Mapping of Disease Mut...]
NP_004973
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
Kir6.1 protein [Guide to Pharmacology]
Kir6.1 protein
Guide to Pharmacology
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
Find Quality Antibodies [GeneTex Inc]
Find Quality Antibodies
GeneTex Inc

989182[uid] (1)
Taxonomy
MULTISPECIES: 5'-nucleotidase, lipoprotein e(P4) family [Streptococcus]
MULTISPECIES: 5'-nucleotidase, lipoprotein e(P4) family [Streptococcus]
gi|1528253565|ref|WP_124787473.1|

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