Family with sequence similarity 138 member C (FAM138C)

Family with sequence similarity 138 member C (FAM138C, also known as F379 retina-specific protein) is a long noncoding RNA highly expressed in the human retina[2][5][1]. It was discovered as a retina-specific transcript with no significant homology to characterized protein-coding genes and encodes an unusual 85 amino acid putative protein, although current databases classify it as an lncRNA rather than a functional protein-coding gene[2][5][4]. FAM138C maps to subtelomeric regions of several chromosomes and is most abundant in retinal tissue, particularly in specialized cell types, but its precise biological function is not well established[1][2]. There is no evidence it is a classical druggable target (receptor, enzyme, channel, or transporter), nor are there established small molecule or biological modulators[5]. FAM138C has been linked loosely to a few conditions through transcriptomic studies, including visual epilepsy and autism spectrum disorder, but causality or mechanism is not established[5]. Expression is predominantly or exclusively retinal, and the gene may be useful as a retina-specific tissue marker, but there is no clinical biomarker or known therapeutic targeting[1][2][5]. The gene's transcripts incorporate repetitive elements (Alu, MIR), and its protein product, if present, is unique and lacks significant similarity to other known proteins[2][4]. While FAM138C is not a conventional therapeutic target, some confusion exists due to alternative names and early descriptions as a protein-coding gene; current authoritative sources classify it as a noncoding RNA[5][4].

Other names

F379F379 retina-specific proteinFAM138C