Deletion within the PAPLA1 coding region that results in the loss of approximately 200 amino acids within the proline-rich domain.
abnormal neuroanatomy | adult stage | progressive
endoplasmic reticulum
retina | progressive
Mutants show endoplasmic reticulum accumulation and severe, age-related retinal degeneration.
PAPLA1c03991
PAPLA1f04269
PAPLA1KG03914