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protein

Caytaxin

ATCAY
protein:Q86WG3disease:adad:direction:down

Gene

ATCAY

Organism

Homo sapiens(9606)

Length

371 aa

Mass

42,120 Da

AI summarysource-grounded · cited inline
claude-haiku-4-5-20251001

Caytaxin (ATCAY) is a 371-amino acid protein that functions in neural tissue development, particularly during postnatal cerebellar cortex maturation (UniProt: Q86WG3). It may regulate glutaminase/GLS to support glutamate neurotransmission or control mitochondrial localization within axons and dendrites. Mutations in ATCAY cause cerebellar ataxia, cayman type (MIM 601238), characterized by progressive cerebellar dysfunction and psychomotor retardation.

In Alzheimer's disease, caytaxin is downregulated in post-mortem AD brain tissue compared to age-matched controls (Chaparral AD proteomics). Analysis of human brain samples using TMT-labeled, data-dependent acquisition proteomics across four subcellular fractions (P2, P3, S2, S3) showed a mean log2 fold-change of −1.31, indicating reduced protein abundance in AD-affected tissue. This suggests potential involvement of cerebellar or glutamatergic pathways in disease pathology.

Generated from the curated entity record below. May contain errors — verify against source links.

Proteomics Evidence · AD

↓ Down in AD

P3

not detected

P2

not detected

S2

-1.308

S3

not detected

Mean log₂FC across detected fractions: -1.3076 (1 of 4 fractions detected)

Human post-mortem AD brain vs age-matched controls, TMT-labeled, 4 subcellular fractions (P2, P3, S2, S3), DDA proteomics.

Related Publications

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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

Disease associations

  • Cerebellar ataxia, cayman typeATCAY

    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.

Sources

Last updated 5/8/2026, 6:28:44 AM