PLS3
Function
Actin-bundling protein.
Involvement in disease
Osteoporosis
OSTEOP
A systemic skeletal disorder characterized by decreased bone mass and deterioration of bone microarchitecture without alteration in the composition of bone. The result is fragile bones and an increased risk of fractures, even after minimal trauma. Osteoporosis is a chronic condition of multifactorial etiology and is usually clinically silent until a fracture occurs.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry. It has been proposed that loss-of-function variants may be associated with X-linked osteoporosis, while missense variants affecting the actin-binding domains might have a gain-of-function effect and may cause X-linked diaphragmatic hernia.
Variants in PLS3 have been suggested to be associated with a variety of abnormalities of the skeletal system, ranging from non-syndromic childhood-onset osteoporosis to osteogenesis imperfecta.
Diaphragmatic hernia 5, X-linked
DIH5
A form of congenital diaphragmatic hernia, a posterolateral defect of the diaphragm, generally located on the left side, that permits the herniation of abdominal viscera into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects. DIH5 is usually transmitted in an X-linked recessive pattern with males being severely affected. Early death is frequent.
None
The disease is caused by variants affecting the gene represented in this entry. It has been proposed that loss-of-function variants may be associated with X-linked osteoporosis, while missense variants affecting the actin-binding domains might have a gain-of-function effect and may cause X-linked diaphragmatic hernia.
Tissue Specificity
Expressed in a variety of organs, including muscle, brain, uterus and esophagus.
Cellular localization
- Cytoplasm
Alternative names
Plastin-3, T-fimbrin, T-plastin, PLS3