Aliases for ATCAY Gene
External Ids for ATCAY Gene
Previous GeneCards Identifiers for ATCAY Gene
This gene encodes a neuron-restricted protein that contains a CRAL-TRIO motif common to proteins that bind small lipophilic molecules. Mutations in this gene are associated with cerebellar ataxia, Cayman type. [provided by RefSeq, Jul 2008]
GeneCards Summary for ATCAY Gene
ATCAY (Ataxia, Cerebellar, Cayman Type) is a Protein Coding gene. Diseases associated with ATCAY include ataxia, cerebellar, cayman type and fibrosis of extraocular muscles, congenital, 5. GO annotations related to this gene include kinesin binding. An important paralog of this gene is BNIPL.
UniProtKB/Swiss-Prot for ATCAY Gene
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.