SIPA1L3
Function
Plays a critical role in epithelial cell morphogenesis, polarity, adhesion and cytoskeletal organization in the lens (PubMed:26231217).
Involvement in disease
A chromosomal translocation involving SIPA1L3 is found in a patient with bilateral severe ocular abnormalities including congenital cataracts, corneal clouding, iridocorneal and lenticular adhesions and microphthalmia. Chromosomal translocation t(2;19)(q37.3;q13.1). In addition to translocation, missense variant has been found in patient with bilateral congenital cataracts (PubMed:26231217).
Cataract 45
CTRCT45
An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.
None
The disease is caused by variants affecting the gene represented in this entry.
Cellular localization
- Apical cell membrane
- Detected in tricellular junctions. Colocalizes with apical F-actin.
Alternative names
KIAA0545, SPAL3, SIPA1L3, Signal-induced proliferation-associated 1-like protein 3, SIPA1-like protein 3, SPA-1-like protein 3