DISEASES

Disease-gene associations mined from literature

Literature associating KCNIP4 and megacystis-microcolon-intestinal hypoperistalsis syndrome

KCNIP4 [ENSP00000371587]

A-type potassium channel modulatory protein 4; Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels. Modulates KCND2 channel density, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner. Modulates KCND3/Kv4.3 currents. Isoform 4 does not increase KCND2 expression at the cell membrane. Isoform 4 retains KCND3 in the endoplasmic reticulum and negatively regulates its expression at the cell membrane; Belongs to the recoverin family.

Synonyms:  KCNIP4,  KCNIP4p,  hKCNIP4,  F5H395,  Q6PIL6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM