ATCAY gene

ATCAY, caytaxin

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Cerebellar ataxia, cayman type

From UniProt:

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. [MIM:601238]

Cytogenetic Location: 19p13.3, which is the short (p) arm of chromosome 19 at position 13.3

Molecular Location: base pairs 3,880,620 to 3,928,082 on chromosome 19 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 19p13.3, which is the short (p) arm of chromosome 19 at position 13.3
  • BNIP-H
  • CLAC