Disease-gene associations mined from literature

Literature associating ATAD3A and cerebellar hypoplasia

ATAD3A [ENSP00000368030]

ATPase family AAA domain-containing protein 3A; Essential for mitochondrial network organization, mitochondrial metabolism and cell growth at organism and cellular level. May play an important role in mitochondrial protein synthesis. May also participate in mitochondrial DNA replication. May bind to mitochondrial DNA D-loops and contribute to nucleoid stability. Required for enhanced channeling of cholesterol for hormone-dependent steroidogenesis; Belongs to the AAA ATPase family.

Synonyms:  ATAD3A,  ATAD3Ap,  hATAD3A,  Q5SV16,  Q9NVI7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM