ARV1

ARV1 is a transmembrane protein that contains a conserved zinc ribbon motif at the N- terminus. A similar protein in mouse is thought to function in fatty acid homeostasis. Mutations in this gene are associated with early infantile epileptic encephalopath

Full Name

ARV1 Homolog, Fatty Acid Homeostasis Modulator

Function

Plays a role as a mediator in the endoplasmic reticulum (ER) cholesterol and bile acid homeostasis (PubMed:11063737, PubMed:12145310, PubMed:20663892).
Participates in sterol transport out of the ER and distribution into plasma membranes (PubMed:20663892).

Biological Process

Cholesterol biosynthetic process Source: Reactome
Intracellular sterol transport Source: GO_Central
Regulation of cholesterol metabolic process Source: UniProtKB
Regulation of intracellular cholesterol transport Source: UniProtKB
Regulation of plasma membrane sterol distribution Source: GO_Central
Sphingolipid metabolic process Source: GO_Central
Sterol metabolic process Source: GO_Central

Cellular Location

Endoplasmic reticulum membrane

Involvement in disease

Developmental and epileptic encephalopathy 38 (DEE38): A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE38 inheritance is autosomal recessive.

Anti-ARV1 antibodies

Mouse Anti-ARV1 Recombinant Antibody (4G12) (CBMAB-A0507-LY)

Datasheet

SDS

Target: ARV1

Host: Mouse

Antibody Isotype: IgG1, κ

Specificity: Human, Rat

Clone: 4G12

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)