The kcnj10 gene encodes an inwardly rectifying potassium channel subunit, a membrane-bound transport protein localized to the plasma membrane. This protein facilitates potassium ion transport and is in...[+]

The kcnj10 gene encodes an inwardly rectifying potassium channel subunit, a membrane-bound transport protein localized to the plasma membrane. This protein facilitates potassium ion transport and is involved in regulating cell membrane potential. Expression is documented in the pronephros, brain, eye, and otic vesicle. [-]

             EAST syndrome
             Pendred Syndrome
             autosomal recessive nonsyndromic deafness 4

          PENDRED SYNDROME; PDS
          SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD