ATCAY

Chr 19p13.3

ATCAY kinesin light chain interacting caytaxin

Aliases:: BNIP-H
MANE:: ENST00000450849.7

OMIM: 608179 ↗NCBI: 85300 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

ATCAY · Q86WG3

v62025-08-01

Predicted Aligned Error matrix for ATCAY — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

69.6/ 100

Low

371 residues

Confidence breakdown

Very high(≥ 90)38%
Confident(70–90)11%
Low(50–70)19%
Very low(< 50)31%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia
BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Cayman type cerebellar ataxia
0.72
Cerebellar ataxia, Cayman type
0.71
hereditary disease
0.19
Hydrocephalus
0.16
genetic developmental and epileptic encephalopathy
0.10
undetermined early-onset epileptic encephalopathy
0.10
familial infantile myoclonic epilepsy
0.09
developmental and/or epileptic encephalopathy with spike-wave activation in sleep
0.09
Rolandic epilepsy
0.09
Landau-Kleffner syndrome
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Caytaxin

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