Family with sequence similarity 234 member A (FAM234A)

Family with sequence similarity 234 member A (FAM234A), also referred to as Integrin alpha FG-GAP repeat containing 3 (ITFG3), is a serine- and leucine-rich human protein encoded by the FAM234A gene on chromosome 16p13.3[1][5][6]. The protein, predicted to be composed of 552 amino acids and approximately 59.7 kDa in size, is characterized by multiple transmembrane regions and is primarily localized to the endoplasmic reticulum, with some cellular presence at the ribosomes and nucleus[1][3][4]. FAM234A is highly conserved across vertebrates but is absent in single-celled organisms[1]. Expression is strong in tissues such as duodenum, adipose tissue, small intestine, and heart, although it appears in many human tissues[1][7]. The gene has multiple isoforms due to alternative splicing[1][9]. Its exact biological function is currently unknown, but genetic deletions (such as the "Newfoundland deletion") are associated with alpha-thalassemia phenotypes[1][2][5]. There is no evidence to classify FAM234A as a therapeutic target, nor are there known interacting drugs, mechanisms of drug action, or established biomarker or safety concern associations at present[5][3]. FAM234A is a member of a protein family defined by FG-GAP repeats, motifs typically involved in protein–protein interaction domains in integrins, but no specific function has been established for this protein in humans[2][8].

Other names

Protein FAM234AITFG3C16orf9DKFZP761D0211FLJ32603Protein ITFG3gs19Integrin alpha FG-GAP repeat containing 3