Disease-gene associations mined from literature

Literature associating ATCAY and cerebellar ataxia, mental retardation and dysequlibrium syndrome

ATCAY [ENSP00000390941]

Ataxia, cerebellar, Cayman type; Functions in the development of neural tissues, particularly the postnatal maturation of the cerebellar cortex. May play a role in neurotransmission through regulation of glutaminase/GLS, an enzyme responsible for the production in neurons of the glutamate neurotransmitter. Alternatively, may regulate the localization of mitochondria within axons and dendrites; BCH domain containing

Synonyms:  ATCAY,  M0R197,  M0R225,  Q86WG3,  KIAA1872 ...

Linkouts:  STRING  Pharos  UniProt  OMIM