KCNN1
Description
The KCNN1 (potassium calcium-activated channel subfamily N member 1) is a protein-coding gene located on chromosome 19.
The KCNN1 gene encodes the KCa2.1 protein, a calcium-activated potassium channel that contributes to the slow component of synaptic afterhyperpolarization (AHP) in neurons. AHP is a period of hyperpolarization that follows an action potential and influences neuronal firing patterns. The KCa2.1 protein is activated before membrane hyperpolarization and forms a voltage-independent channel with three other calmodulin-binding subunits. The gene belongs to the KCNN family of potassium channel genes.
The KCNN1 gene encodes the KCa2.1 protein, which forms a voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization. The KCa2.1 protein is thought to regulate neuronal excitability by contributing to the slow component of synaptic afterhyperpolarization. This information is based on data from UniProtKB:Q9EQR3, PubMed:17142458, PubMed:8781233, and PubMed:9287325.
KCNN1 is also known as KCa2.1, SK1, SKCA1, hSK1.
Associated Diseases
- hemoglobin D disease
- overhydrated hereditary stomatocytosis
- IRIDA syndrome
- Rh deficiency syndrome
- ghosal hematodiaphyseal dysplasia
- X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
- thrombocytopenia with congenital dyserythropoietic anemia
