PFN1 Chromosome 17
Profilin 1
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What This Gene Does
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]
Gene Info
Gene Group
Profilins
Locus Type
gene with protein product
Location
17p13.2
Ensembl
ENSG00000108518
Associated Conditions (4)
Amyotrophic lateral sclerosis type 18
Neurodegeneration
PFN1-related disorder
Lower limb muscle weakness
Key Variants
RS140547520
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 18, Amyotrophic lateral sclerosis type 18
Health Risk
RS1597686012
Conflicting classifications of pathogenicity
Health Risk
RS2151134645
Likely pathogenic
Neurodegeneration, Amyotrophic lateral sclerosis type 18, Neurodegeneration
Health Risk
RS387907265
Likely pathogenic
Amyotrophic lateral sclerosis type 18, PFN1-related disorder, Lower limb muscle weakness
Health Risk
RS387907264
Pathogenic
Amyotrophic lateral sclerosis type 18, Amyotrophic lateral sclerosis type 18
Health Risk
RS387907266
Pathogenic
Amyotrophic lateral sclerosis type 18, Amyotrophic lateral sclerosis type 18
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140547520 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 18, Amyotrophic lateral sclerosis type 18 |
| RS1597686012 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2151134645 | Health Risk | Likely pathogenic | Neurodegeneration, Amyotrophic lateral sclerosis type 18, Neurodegeneration |
| RS387907265 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 18, PFN1-related disorder, Lower limb muscle weakness |
| RS387907264 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 18, Amyotrophic lateral sclerosis type 18 |
| RS387907266 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 18, Amyotrophic lateral sclerosis type 18 |