Symbol: Name: ID: |
GLMN glomulin, FKBP associated protein GFS:3719 |
Gene name: | GLMN |
Chromosome: | 1p22.1 |
Previous Symbols: | VMGLOM |
Previous Names: | venous malformation with glomus cells |
Aliases: | FAP48, GLML, GVM, FKBPAP |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:2141180 | Rat Genome Database ID: | RGD:1588600 |
HGNC ID: | HGNC:14373 | RefSeq IDs: | NM_053274 |
Entrez Gene ID: | 11146 | Ensembl Gene ID: | ENSG00000174842 |
VEGA IDs: | OTTHUMG00000010283 | UniProt ID: | Q92990 |
UCSC ID: | uc001dor.2 | OMIM ID: | 601749 |
Pubmed: | PMID8955134 | ||
CCDS IDs: | CCDSCCDS738.1 |
Glomulin is a protein that in humans is encoded by the 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. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
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.
Products for GLMN gene
Catalog | Product Name | Application | Company |
GFS:E03719 | glomulin, FKBP associated protein; ELISA kit | ELISA | n/a |
GFS:A03719 | glomulin, FKBP associated protein; Anti | ANTIBODIES | n/a |
GFS:P03719 | glomulin, FKBP associated protein; Protien | Protien | n/a |