MTX2

The protein encoded by this gene is highly similar to the metaxin 2 protein from mouse, which has been shown to interact with the mitochondrial membrane protein metaxin 1. Because of this similarity, it is thought that the encoded protein is peripherally associated with the cytosolic face of the outer mitochondrial membrane, and that it is involved in the import of proteins into the mitochondrion. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7.

Full Name

METAXIN 2

Function

Involved in transport of proteins into the mitochondrion.

Biological Process

Inner mitochondrial membrane organization Source: UniProtKB
Mitochondrial transport Source: UniProtKB
Mitochondrion organization Source: GO_Central
Protein insertion into mitochondrial outer membrane Source: ComplexPortal

Cellular Location

Mitochondrion outer membrane
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.