Family with sequence similarity 120 member C (FAM120C)

Family with sequence similarity 120 member C (FAM120C) is a protein-coding gene encoding a putative transmembrane protein, implicated primarily in neurodevelopment. Mutations and deletions involving FAM120C are associated with intellectual disability and autism spectrum disorder, indicating a possible functional role in brain development and synaptic signaling. FAM120C is enriched in brain tissues such as the cortex and cerebellum, and its expression pattern resembles that of FMR1, a gene implicated in Fragile X syndrome. FAM120C encodes an RNA-binding protein, may interact within the FMRP network, and has also been reported as part of a prognostic immune-related RNA-binding protein gene set in head and neck squamous cell carcinoma. There is currently no evidence that FAM120C is a direct therapeutic target, nor are there known drugs interacting with it[1][3][5].

Other names

Constitutive coactivator of PPAR-gamma-like protein 2CXorf17ORF34FLJ20506Tumor antigen BJ-HCC-21