MON1A
Description
The MON1A (MON1 homolog A, secretory trafficking associated) is a protein-coding gene located on chromosome 3.
MON1A plays a crucial role in the movement of cellular materials through the secretory pathway. It does not participate in the delivery of cellular components to lysosomes for breakdown. MON1A collaborates with CCZ1 to act as a guanine exchange factor (GEF) for RAB7. This function involves promoting the replacement of GDP with GTP on RAB7, transforming it from an inactive to an active state.
MON1A is also known as SAND1.
Associated Diseases
- early-onset non-syndromic cataract
- isolated ectopia lentis
- cataract
- juvenile cataract-microcornea-renal glucosuria syndrome
- hereditary hyperferritinemia with congenital cataracts
