NP_149053.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
42,821 Da
NCBI Official Full Name
caytaxin
NCBI Official Synonym Full Names
ataxia, cerebellar, Cayman type
NCBI Official Synonym Symbols
NCBI Protein Information
caytaxin; Cayman ataxia; BNIP-2-homolgy; BNIP-2-homology; ataxia cayman type protein
UniProt Protein Name
Caytaxin
UniProt Synonym Protein Names
Ataxia cayman type protein; BNIP-2-homology; BNIP-H
UniProt Synonym Gene Names
UniProt Entry Name
ATCAY_HUMAN
NCBI Summary for 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, Jul 2008]
UniProt Comments for ATCAY
ATCAY: 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. Defects in ATCAY are the cause of cerebellar ataxia, cayman type (ATCAY). ATCAY is 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. 2 isoforms of the human protein are produced by alternative splicing.
Chromosomal Location of Human Ortholog: 19p13.3
Cellular Component: neuron projection; mitochondrion; axon; mitochondrial membrane; dendrite; cytoplasm; synapse; cell junction
Molecular Function: protein binding; kinesin binding
Biological Process: regulation of protein localization; transport; apoptosis; neurite development; mitochondrion distribution
Disease: Cerebellar Ataxia, Cayman Type
Research Articles on ATCAY
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Products associated with ATCAY elisa kit
Diseases associated with ATCAY elisa kit
Organs/Tissues associated with ATCAY elisa kit
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