KCNIP4
Description
The KCNIP4 (potassium voltage-gated channel interacting protein 4) is a protein-coding gene located on chromosome 4.
KCNIP4 is a protein encoded by the KCNIP4 gene in humans. It belongs to the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which are small calcium binding proteins involved in regulating neuronal excitability. KCNIP4, like other KCNIP family members, has EF-hand-like domains and is an integral subunit of Kv4 channel complexes. It interacts with presenilin, a protein involved in Alzheimer's disease. Multiple isoforms of KCNIP4 are generated through alternative splicing.
KCNIP4 is a regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels. It modulates the density, inactivation kinetics, and recovery from inactivation of KCND2 channels in a calcium-dependent and isoform-specific manner. KCNIP4 also modulates KCND3/Kv4.3 currents. Isoform 4 of KCNIP4 does not increase KCND2 expression at the cell membrane, but retains KCND3 in the endoplasmic reticulum and negatively regulates its expression at the cell membrane.
KCNIP4 is also known as CALP, KCHIP4.
Associated Diseases
- macrothrombocytopenia, isolated, 2, autosomal dominant
- thrombocytopenia 4
- autosomal dominant macrothrombocytopenia
- beta-thalassemia-X-linked thrombocytopenia syndrome
- platelet-type bleeding disorder 9
- platelet-type von Willebrand disease
- thrombocythemia 2
- thrombocytopenia 7
