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