Family with sequence similarity 8 member A1 (FAM8A1)

Family with sequence similarity 8 member A1 (FAM8A1) is a multifunctional membrane protein primarily involved in cellular protein quality control processes. It acts as a cofactor in the assembly and function of the endoplasmic reticulum–associated degradation (ERAD) machinery by interacting with the HRD1 ubiquitin ligase complex and related proteins such as HERPUD1 and OS9, thereby facilitating the removal of misfolded proteins from the ER. FAM8A1 has ubiquitous expression with an additional testis-specific isoform expressed during spermatogenesis. Its gene is occasionally amplified in high-grade urothelial carcinomas, suggesting a possible oncogenic biomarker role. The protein is not currently considered a direct therapeutic target or druggable entity but is important for maintaining proteostasis and may be relevant in neurodegenerative or neoplastic contexts[1][2][3][4][5][7][10].

Other names

AHCPAutosomal highly conserved proteinprotein FAM8A1Family with sequence similarity 8 member A1FA8A1_HUMAN