PLIN4
Function
May play a role in triacylglycerol packaging into adipocytes. May function as a coat protein involved in the biogenesis of lipid droplets (By similarity).
Involvement in disease
Myopathy with rimmed ubiquitin-positive autophagic vacuolation, autosomal dominant
MRUPAV
An autosomal dominant, slowly progressive myopathy characterized by skeletal muscle weakness variably affecting the distal or proximal lower limbs. Some patients may also have upper limb involvement or neck muscle weakness. Skeletal muscle biopsy shows distinctive myopathic features including rimmed ubiquitin-positive autophagic vacuolation and abnormal subsarcolemmal protein aggregation.
None
The disease is caused by variants affecting the gene represented in this entry. Disease causing variants are heterozygous expansions of a 99-bp repetitive sequence in exon 3. Normal repeat number is 29 to 31, whereas pathogenic repeats range from 39 to 50. A higher number of repeats may be associated with earlier age at disease onset, more severe phenotypes, and faster disease progression.
Sequence Similarities
Belongs to the perilipin family.
Cellular localization
- Cell membrane
- Cytoplasm
- Lipid droplet
- Nascent lipid droplet surface-associated; association with lipid droplets is triacylglycerol synthesis-dependent.
Alternative names
KIAA1881, PLIN4, Perilipin-4, Adipocyte protein S3-12