CAPN15
Involvement in disease
Oculogastrointestinal neurodevelopmental syndrome
OGIN
An autosomal recessive neurodevelopmental disorder characterized by growth deficits, microcephaly, global developmental delay, hearing loss, and microphthalmia and/or coloboma. Other congenital anomalies include imperforate anus, horseshoe kidney, and structural cardiac defects. Some patients have been reported with normal motor and cognitive development.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the peptidase C2 family.
Tissue Specificity
Widely expressed with higher expression in brain.
Alternative names
SOLH, CAPN15, Calpain-15, Small optic lobes homolog