background:
GLMN is 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. GLMN may represent a naturally occurring ligand of the immunophilins FKBP59 and FKBP12 and may function as an membrane anchoring protein. Isoform 1 may stimulate the p70S6K pathway. Isoform 2 may inhibit cell proliferation and increase IL2 production.
Function:
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.
Subunit:
Monomer. Isoform 1 interacts with notphosphorylated MET and is released upon receptor phosphorylation. Isoform 2 interacts with FKBP59 and FKBP12. Isoform 1 is part of a SCF-like complex consisting of CUL7, RBX1, SKP1, FBXW8 and GLMN isoform 1.
Tissue Specificity:
Ubiquitous.
Post-translational modifications:
Phosphorylated on tyrosine residues.
DISEASE:
Defects in GLMN are the cause of glomuvenous malformations (GVMs) [MIM:27600]. GVMs are characterized by the presence of smooth-muscle-like glomus cells in the media surrounding distended vascular lumens.
Database links:
Entrez Gene: 504211 Cow
Entrez Gene: 11146 Human
Entrez Gene: 170823 Mouse
GenBank: NP_444504.1 Human
Omim: 601749 Human
SwissProt: Q92990 Human
SwissProt: Q8BZM1 Mouse
Unigene: 49105 Human
Unigene: 41417 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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