DISEASES

Disease-gene associations mined from literature

Literature associating C2orf47 and spinocerebellar ataxia type 28

C2orf47 [ENSP00000295079]

m-AAA protease-interacting protein 1, mitochondrial; Promotes sorting of SMDT1/EMRE in mitochondria by ensuring its maturation. Interacts with the transit peptide region of SMDT1/EMRE precursor protein in the mitochondrial matrix, leading to protect it against protein degradation by YME1L1, thereby ensuring SMDT1/EMRE maturation by the mitochondrial processing peptidase (PMPCA and PMPCB).

Synonyms:  C2orf47,  C2orf47p,  hC2orf47,  A0A024R3U8,  C2ORF47 ...

Linkouts:  STRING  Pharos  UniProt