KIAA1671 is a protein-coding gene located on chromosome 22 with predicted roles in cilium function and protein binding based on Gene Ontology annotations. The gene has been implicated in multiple disease contexts through genome-wide association studies. In Alzheimer's disease, KIAA1671 variants were identified as study-wide significant loci associated with amyloid-β, tau, and neurodegeneration endophenotypes 1. In autism spectrum disorder, KIAA1671 was identified as a key differentially expressed gene with m6A RNA modification variants (rs5752063, rs12627825) showing cis-eQTL signals, suggesting potential involvement in post-transcriptional gene regulation relevant to neurodevelopmental pathology 2. The gene has also been associated with diabetic cataract susceptibility in a Taiwanese population 3 and identified as potentially involved in carotid paraganglioma pathogenesis 4. Additionally, KIAA1671 gene products were detected as autoantigens in breast cancer sera, particularly showing elevated reactivity in ductal carcinoma in situ 5. While KIAA1671 appears relevant to multiple disease pathways, its precise molecular mechanism and specific protein function remain incompletely characterized. Further functional studies are needed to elucidate its role in ciliary biology and disease pathogenesis.
No tissue expression data available for this gene.