Disease-gene associations mined from literature

Literature associating AFG3L2 and paraplegia

AFG3L2 [ENSP00000269143]

Paraplegin-like protein; ATP-dependent protease which is essential for axonal and neuron development. In neurons, mediates degradation of SMDT1/EMRE before its assembly with the uniporter complex, limiting the availability of SMDT1/EMRE for MCU assembly and promoting efficient assembly of gatekeeper subunits with MCU. Required for the maturation of paraplegin (SPG7) after its cleavage by mitochondrial-processing peptidase (MPP), converting it into a proteolytically active mature form (By similarity); In the N-terminal section; belongs to the AAA ATPase family.

Synonyms:  AFG3L2,  AFG3L2p,  hAFG3L2,  D3DUJ0,  Q9Y4W6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM