KCTD13

Description

The KCTD13 (potassium channel tetramerization domain containing 13) is a protein-coding gene located on chromosome 16.

KCTD13 is a protein encoded by the KCTD13 gene in humans. It interacts with PCNA and mutations in this gene have been associated with abnormalities in brain growth and behavior.

KCTD13 acts as a substrate-specific adapter for the BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex. This complex plays a crucial role in synaptic transmission by ubiquitinating RHOA, leading to its degradation by the proteasome. The degradation of RHOA regulates the actin cytoskeleton and ultimately promotes synaptic transmission.

KCTD13 is also known as BACURD1, FKSG86, PDIP1, POLDIP1, hBACURD1.

Associated Diseases

• schizophrenia
• bipolar disorder
• isolated congenital hypogonadotropic hypogonadism
• 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
• partial chromosome Y deletion