RBCC Red Blood Cell Collection

GLMN_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: GLMN , FAP48, FAP68, VMGLOM
Protein names and data: GLMN_HUMAN , Glomulin , FK506-binding protein-associated protein; FAP; FKBP-associated protein Lenght: 594 a.a.
Mass: 68208 Da
fasta formatted sequence
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.
Disease: ( OMIM: 138000 601749 ) Glomuvenous malformations (GVMs) [MIM:138000]: Characterized by the presence of smooth-muscle-like glomus cells in the media surrounding distended vascular lumens. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue specificity: Ubiquitous.

Genetic variants

336 - 336 L -> S (in dbSNP:rs35258161). VAR_061653 35258161
393 - 393 Missing (in GVMs). VAR_017241

Database cross-references

UniProt: Q92990
Ensembl: ENST00000370360
Ensembl: ENST00000495106
MIM: 138000
MIM: 601749
neXtProt: NX_Q92990
Antibodypedia: Q92990 (may not find the protein thus also not any antibody)
Local full text data: click here

Users' comments

Login to add a comment.

© Hegelab and Biomembrane 2013; Powered by TurboGears 2