HEAT repeat-containing protein 5B (HEATR5B)

HEAT repeat-containing protein 5B (HEATR5B) is a highly conserved protein composed of HEAT repeats—flexible, tandemly repeated structural motifs comprising two alpha helices joined by a loop. HEATR5B acts as a scaffold for protein-protein interactions, particularly in processes involving membrane trafficking, such as endocytosis and intracellular vesicle transport. The protein is expressed during human brain development and appears essential for normal neurodevelopment, as biallelic loss-of-function mutations are associated with pontocerebellar hypoplasia, global developmental delay, epilepsy, and embryonic lethality in animal models[1][2]. In humans, HEATR5B interacts with cofactors such as Aftiphilin and γ-Synergin, which together mediate association with clathrin adaptor protein complex-1 (AP-1), involved in trafficking at the trans-Golgi network and endosomes[2][4]. While its cellular functions are not yet fully defined, current evidence links HEATR5B to endocytic and vesicular processes critical for neural and cellular function. There are no known drugs targeting this protein, and it is not currently considered a therapeutic target[1][2][4].

Other names

KIAA1414DKFZp686P15184p200p200a