ATCAY

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]

Full Name

ataxia, cerebellar, Cayman type

Function

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.

Biological Process

Apoptotic process Source: GO_Central
Mitochondrion distribution Source: UniProtKB
Negative regulation of glutamate metabolic process Source: UniProtKB
Neuron projection development Source: UniProtKB
Polyphosphate catabolic process Source: GO_Central
Regulation of protein localization Source: UniProtKB

Cellular Location

Cytoplasm; Mitochondrion; Axon; Dendrite; Presynapse; Growth cone

Involvement in disease

Cerebellar ataxia, cayman type (ATCAY): Found in a population isolate on Grand Cayman Island and causes a marked psychomotor retardation and prominent nonprogressive cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait. Hypotonia is present from early childhood.

PTM

Cleaved by CASP3 and CASP7. The potential C-terminal product released by CASP3 cleavage may inhibit the ERK signaling pathway through MAP2K2.