Glomulin (GLMN)

Glomulin is essential for normal development of the vasculature and mutations in this gene have been associated with glomuvenous malformations, also called glomangiomas. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined.

The cDNA sequence encodes a protein of 417 amino acids. This novel protein, named FAP48 for FKBP-associated protein, can interact with FKBP59 and FKBP12 both in vitro and in vivo; however, binding is inhibited by FK506 and rapamycin in a dose-dependent manner. FAP48 may therefore represent a naturally occurring ligand of these immunosuppressant drug receptors.