GSN gelsolin
Gene ID: 2934, updated on 3-Nov-2024Gene type: protein coding
Also known as: ADF; AGEL; AMYLD4
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- Go to complete Gene record for GSN
- Go to Variation Viewer for GSN variants
Summary
The protein encoded by this gene binds to the "plus" ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments. Defects in this gene are a cause of familial amyloidosis Finnish type (FAF). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Associated conditions
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Description | Tests |
---|---|
Finnish type amyloidosis | See labs |
Genomic context
- Location:
- 9q33.2
- Sequence:
- Chromosome: 9; NC_000009.12 (121201483..121332842)
- Total number of exons:
- 42
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for GSN 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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