PFN1 profilin 1
Gene ID: 5216, updated on 19-Sep-2024Gene type: protein coding
Also known as: ALS18
- See all available tests in GTR for this gene
- Go to complete Gene record for PFN1
- Go to Variation Viewer for PFN1 variants
Summary
This gene encodes a member of the profilin family of small actin-binding proteins. The encoded protein plays an important role in actin dynamics by regulating actin polymerization in response to extracellular signals. Deletion of this gene is associated with Miller-Dieker syndrome, and the encoded protein may also play a role in Huntington disease. Multiple pseudogenes of this gene are located on chromosome 1. [provided by RefSeq, Jul 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Amyotrophic lateral sclerosis type 18 | See labs |
Genomic context
- Location:
- 17p13.2
- Sequence:
- Chromosome: 17; NC_000017.11 (4945652..4948530, complement)
- Total number of exons:
- 3
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PFN1 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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