PLIN4 Chromosome 19
Perilipin 4
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What This Gene Does
Members of the perilipin family, such as PLIN4, coat intracellular lipid storage droplets (Wolins et al., 2003 [PubMed 12840023]).[supplied by OMIM, Feb 2010]
Gene Info
Gene Group
Perilipins
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000167676
Associated Conditions (1)
Vacuolar Neuromyopathy
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113818201 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201053045 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS915264513 | Health Risk | Likely pathogenic | Vacuolar Neuromyopathy, Vacuolar Neuromyopathy |