Aliases for GLMN Gene
External Ids for GLMN Gene
Previous HGNC Symbols for GLMN Gene
Previous GeneCards Identifiers for GLMN Gene
This gene encodes a phosphorylated protein that is a member of a Skp1-Cullin-F-box-like complex. The protein is essential for normal development of the vasculature and mutations in this gene have been associated with glomuvenous malformations, also called glomangiomas. Multiple splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
GeneCards Summary for GLMN Gene
GLMN (Glomulin, FKBP Associated Protein) is a Protein Coding gene. Diseases associated with GLMN include glomuvenous malformations and blue rubber bleb nevus syndrome. GO annotations related to this gene include ubiquitin protein ligase binding and ubiquitin-protein transferase inhibitor activity.
UniProtKB/Swiss-Prot for GLMN Gene
Essential for normal development of the vasculature. May represent a naturally occurring ligand of the immunophilins FKBP59 and FKBP12. May function as an membrane anchoring protein. Isoform 1 may stimulate the p70S6K pathway. Isoform 2 may inhibit cell proliferation and increase IL2 production.