FAM50A is an X-linked gene encoding a spliceosome complex C component with critical roles in RNA processing and cellular transformation. Functionally, FAM50A acts as a splicing regulator involved in pre-mRNA processing 1, with evidence supporting roles in transcriptional regulation and protein binding within the nucleoplasm 1. In normal development, FAM50A is essential for proper neurogenesis and craniofacial patterning, as demonstrated by abnormal development in fam50a knockout zebrafish 1. Mechanistically, FAM50A regulates alternative splicing of target transcripts, including SHP2, which modulates STAT3 phosphorylation and downstream oncogenic signaling 23. FAM50A also interacts with C9ORF78 to enhance ASNS transcription, promoting asparagine biosynthesis critical for metastatic cascades 4. The protein exhibits genetic redundancy with its paralogue FAM50B in cancer cell fitness 5. Disease relevance is substantial: mutations in FAM50A cause Armfield X-linked intellectual disability syndrome, a spliceosomopathy characterized by dysregulated neurodevelopmental transcripts 1. FAM50A is upregulated in multiple cancers including breast cancer, hepatocellular carcinoma, and colorectal cancer, where it promotes proliferation via CyclinA2/CDK2 pathway activation and serves as a poor prognostic marker 467. Additionally, FAM50A variants associate with Parkinson disease risk through effects on putamen volume 8.