FIGURE: 1 / 1
Immunogen sequence: LSAIGHPFPK MIFNHGRKKR TWNYLEFEEE ENKQLADSMA SLAYLVFVQG IHIDQLPMVL SPLYLLQFNM GHIEVFLQRT EESV
Highest antigen sequence identity to the following orthologs: Mouse - 81%, Rat - 77%.
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. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined.
Protein Aliases: FAP; FK506-binding protein-associated protein; FKBP-associated protein; Glomulin
Gene Aliases: FAP; FAP48; FAP68; FKBPAP; GLML; GLMN; GVM; VMGLOM
UniProt ID: (Human) Q92990
Entrez Gene ID: (Human) 11146
Molecular Function: ubiquitin-protein ligase