FSHD region gene 2 family member C (FRG2C)

FSHD region gene 2 family member C (FRG2C) encodes a nuclear protein that is part of a family of chromatin-associated genes, some of which function as long noncoding RNAs involved in nuclear architecture and heterochromatin regulation[1][2]. FRG2C is predominantly expressed in fibroblasts, with tissue-specific regulation observed among FRG2 paralogs; its encoded protein is detected in the nucleus, and the gene locus is found on chromosome 3p12.3[1][2][3]. While FRG2 family members have been implicated in chromatin organization, only paralog FRG2A is functionally linked to muscular dystrophy (FSHD), through overexpression in muscle tissue of FSHD patients[2][5]. FRG2C itself is sometimes mutated in rare familial hyperphosphatemic tumoral calcinosis and spondyloarthropathy cases[3][4], but is not considered a therapeutic target, nor does it have established roles in major disease categories, drug interactions, or as a clinical biomarker. Its principal biological function appears to be related to heterochromatin regulation and the maintenance of nuclear architecture[2].

Other names

Protein FRG2-like-2HSA3-FRG2FSHD region gene 2 protein family member CFSHD region gene 2 family, member C-likeFRG2C