KCNK13

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Description

The KCNK13 (potassium two pore domain channel subfamily K member 13) is a protein-coding gene located on chromosome 14.

KCNK13, also known as K2P13.1, is a human gene that encodes a potassium channel containing two pore-forming P domains.

This potassium channel exhibits weak inward rectification in symmetrical potassium solutions.

KCNK13 is also known as K2p13.1, THIK-1, THIK1.

Associated Diseases

• alpha thalassemia-intellectual disability syndrome type 1
• neutropenia-monocytopenia-deafness syndrome
• X-linked severe congenital neutropenia
• hemoglobin D disease
• Heinz body anemia
• neutropenia, severe congenital, 2, autosomal dominant
• overhydrated hereditary stomatocytosis
• dehydrated hereditary stomatocytosis
• X-linked sideroblastic anemia 1
• neutropenia, severe congenital, 1, autosomal dominant
• monosomy 7 myelodysplasia and leukemia syndrome 1
• delta-beta-thalassemia
• hemoglobin E-beta-thalassemia syndrome
• hemoglobin E disease
• IRIDA syndrome