GLMN gene

glomulin, FKBP associated protein

The information on this page was automatically extracted from online scientific databases.

From NCBI 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. Multiple splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

From UniProt:

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.

From NCBI Gene:

  • Glomuvenous malformations

From UniProt:

Glomuvenous malformations (GVMs): Characterized by the presence of smooth-muscle-like glomus cells in the media surrounding distended vascular lumens. [MIM:138000]

Cytogenetic Location: 1p22.1, which is the short (p) arm of chromosome 1 at position 22.1

Molecular Location: base pairs 92,245,786 to 92,441,936 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1p22.1, which is the short (p) arm of chromosome 1 at position 22.1
  • FAP
  • FAP48
  • FAP68
  • FKBPAP
  • GLML
  • GVM
  • VMGLOM