FBLN1 fibulin 1
Gene ID: 2192, updated on 7-Apr-2024Gene type: protein coding
Also known as: FBLN; FIBL1
- See all available tests in GTR for this gene
- Go to complete Gene record for FBLN1
- Go to Variation Viewer for FBLN1 variants
Summary
Fibulin 1 is a secreted glycoprotein that becomes incorporated into a fibrillar extracellular matrix. Calcium-binding is apparently required to mediate its binding to laminin and nidogen. It mediates platelet adhesion via binding fibrinogen. Four splice variants which differ in the 3' end have been identified. Each variant encodes a different isoform, but no functional distinctions have been identified among the four variants. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci. GeneReviews: Not available | |
| Synpolydactyly type 2 | See labs |
Genomic context
- Location:
- 22q13.31
- Sequence:
- Chromosome: 22; NC_000022.11 (45502883..45601135)
- Total number of exons:
- 20
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for FBLN1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- FBLN1 database
- 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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