GLMN glomulin, FKBP associated protein
Gene ID: 11146, updated on 2-Nov-2024Gene type: protein coding
Also known as: FAP; GVM; GLML; FAP48; FAP68; FKBPAP; VMGLOM
- See all available tests in GTR for this gene
- Go to complete Gene record for GLMN
- Go to Variation Viewer for GLMN variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Glomuvenous malformation | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2013-07-18) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2013-07-18) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 1p22.1
- Sequence:
- Chromosome: 1; NC_000001.11 (92246402..92370844, complement)
- Total number of exons:
- 21
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GLMN variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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