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.

Anti-ATCAY antibodies

Mouse Anti-ATCAY Recombinant Antibody (CBLNA-119) (CBMAB-1156-CN)

Datasheet

SDS

Target: ATCAY

Host: Mouse

Antibody Isotype: IgG1, κ

Specificity: Human

Clone: CBLNA-119

Application*: WB, E

For Research Use Only. Not For Clinical Use.

(P): Predicted

* Abbreviations

IFImmunofluorescence

IHImmunohistochemistry

IPImmunoprecipitation

WBWestern Blot

EELISA

MMicroarray

CIChromatin Immunoprecipitation

FFlow Cytometry

FNFunction Assay

IDImmunodiffusion

RRadioimmunoassay

TCTissue Culture

GSGel Supershift

NNeutralization

BBlocking

AActivation

IInhibition

DDepletion

ESELISpot

DBDot Blot

MCMass Cytometry/CyTOF

CTCytotoxicity

SStimulation

AGAgonist

APApoptosis

IMImmunomicroscopy

BABioassay

CSCostimulation

EMElectron Microscopy

IEImmunoelectrophoresis

PAPeptide Array

ICImmunocytochemistry

PEPeptide ELISA

MDMeDIP

SHIn situ hybridization

IAEnzyme Immunoassay

SEsandwich ELISA

PLProximity Ligation Assay

ECELISA(Cap)

EDELISA(Det)

BIBioimaging

IOImmunoassay

LFLateral Flow Immunoassay

LALuminex Assay

CImmunohistochemistry-Frozen Sections

PImmunohistologyp-Paraffin Sections

ISIntracellular Staining for Flow Cytometry

MSElectrophoretic Mobility Shift Assay

RIRNA Binding Protein Immunoprecipitation (RIP)