Located in plasma membrane. Implicated in hypotrichosis 15. [provided by Alliance of Genome Resources, Jul 2025]
Forensic Context
A study in human neonates with hypoxic-ischemic encephalopathy (HIE) identified the C3orf52 as one of 11 significant genes commonly associated with adverse outcome (death or disability) across cohorts from high-income countries and South Asia, though its expression was oppositely regulated, being downregulated in the high-income cohort but upregulated in the South Asia cohort in cases with adverse outcome [Montaldo et al. DOI:10.1001/jamanetworkopen.2023.54433].