Metaxin-2
Function
Involved in transport of proteins into the mitochondrion.
Involvement in disease
Mandibuloacral dysplasia progeroid syndrome
MDPS
A form of mandibuloacral dysplasia, a rare progeroid disorder with clinical and genetic heterogeneity, characterized by growth retardation, craniofacial dysmorphic features due to distal bone resorption, musculoskeletal and skin abnormalities associated with lipodystrophy. MDPS is an autosomal recessive disorder. Clinical features include poor growth, osteoporosis, osteopenia, acroosteolysis of distal phalanges, arterial calcification, renal glomerulosclerosis and severe hypertension.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the metaxin family.
Cellular localization
- Mitochondrion outer membrane
- Mitochondrion
Alternative names
Metaxin-2, Mitochondrial outer membrane import complex protein 2, MTX2