Short QT syndrome-3; SQT3

Disease ID:856
Name:Short QT syndrome-3; SQT3
Associated with:1 target
Synonyms
Familial short QT syndrome
Database Links
OMIM: 609622
Orphanet: ORPHA51083

Targets

Kir2.1
Role:  Increased Kir current in skeletal and cardiac ventricular muscle
Comments:  Characteristics of SQT3 are shortened QT interval leading to arrhythmia and potentially sudden death.
References:  1-2

Ligands

No ligand related data available for Short QT syndrome-3; SQT3

References

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1. Hattori T, Makiyama T, Akao M, Ehara E, Ohno S, Iguchi M, Nishio Y, Sasaki K, Itoh H, Yokode M et al.. (2012) A novel gain-of-function KCNJ2 mutation associated with short-QT syndrome impairs inward rectification of Kir2.1 currents. Cardiovasc. Res., 93 (4): 666-73. [PMID:22155372]

2. Priori SG, Pandit SV, Rivolta I, Berenfeld O, Ronchetti E, Dhamoon A, Napolitano C, Anumonwo J, di Barletta MR, Gudapakkam S et al.. (2005) A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene. Circ. Res., 96 (7): 800-7. [PMID:15761194]