Gene Symbol | GLMN |
Entrez Gene ID | 11146 |
Full Name | glomulin, FKBP associated protein |
Synonyms | FAP,FAP48,FAP68,FKBPAP,GLML,GVM,VMGLOM |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Glomuvenous malformations, 138000 (3) |