Family with sequence similarity 47 member A (FAM47A)

Family with sequence similarity 47 member A (FAM47A) is a human, protein-coding gene located on chromosome Xp21.1 that encodes a protein of unknown function[1][3][5][6][7][8][12]. FAM47A is annotated as protein binding in gene ontology catalogs, and is predicted to be part of the FAM47 protein family[5][4]. It has not been classified into major categories such as receptor, enzyme, or transporter, and there are no functional studies clearly establishing its molecular activity or cellular role[1][3][5]. FAM47A is relatively intolerant to loss-of-function variants and has emerged as a candidate gene for autism spectrum disorder based on several rare, maternally inherited variants in ASD probands[1]. Other suggested disease associations (e.g., biliary papillomatosis) require further validation, and current databases contain no information implicating FAM47A in drug targeting, mechanisms of action, biomarker use, or therapeutic safety issues[7][1].

Other names

Protein FAM47AMGC27003FAM47ASimilar to hypothetical protein FLJ35782

None known; drug mechanisms have not been described for FAM47A due to lack of therapeutic targeting