Rabbit anti-Human GLMN Polyclonal Antibody

Uniprot Id

Q92990

Target Species

Human

Target Name

GLMN

Target Full Name

Glomulin

Target Function

Regulatory component of cullin-RING-based SCF (SKP1-Cullin-F-box protein) E3 ubiquitin-protein ligase complexes. Inhibits E3 ubiquitin ligase activity by binding to RBX1 (via RING domain) and inhibiting its interaction with the E2 ubiquitin-conjugating enzyme CDC34. Inhibits RBX1-mediated neddylation of CUL1. Required for normal stability and normal cellular levels of key components of SCF ubiquitin ligase complexes, including FBXW7, RBX1, CUL1, CUL2, CUL3, CUL4A, and thereby contributes to the regulation of CCNE1 and MYC levels. Essential for normal development of the vasculature. Contributes to the regulation of RPS6KB1 phosphorylation.

Target Involvement

Glomuvenous malformations (GVMs)

Target Tissue Specificity

Ubiquitous.

Target Synonyms

FAP; FAP48; FAP68; FK506 binding protein associated protein; FK506-binding protein-associated protein; FKBP associated protein; FKBP-associated protein; FKBP-associated protein, 48-KD; FKBP-associated protein, 68-KD; FKBPAP; GLML; Glmn; GLMN_HUMAN; Glomulin; glomulin, FKBP associated protein; GVM; VMGLOM

Target Background

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.