CLCNKA

CLCNKA

A gene on chromosome 1p36 that encodes a member of the voltage-gated chloride channel and ion transporters. The CLCNKA protein product is thought to play a role in salt reabsorption in the kidney and potassium recycling in the inner ear.
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A single change in the DNA sequence of a gene called CLCNKA leads to a change from arginine to glycine in the 83rd amino acid of the protein.
Recientemente se informo de un paciente con sindrome de Bartter neonatal y sordera neurosensorial (Bartter tipo 3) que no presentaba ninguna mutacion en el gen que codifica para la proteina Barttin, pero si tenia mutaciones heterocigotas en los genes CLCNKA y CLCNKB; la perdida de la funcion de los alelos de ambos canales genera un fenotipo grave del sindrome de Bartter con sordera neurosensorial muy similar a lo que pasa en la interaccion de la proteina Barttin con ambos canales CLCNK.