Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

ABC Transporters: Exporter

ABC Transporters: Exporter

ATP-binding cassette or ABC transporter is the largest superfamily of integral membrane proteins. The transporters have transmembrane-binding domains (TMDs) and nucleotide-binding domains (NBDs). The TMDs are specific to their substrates, whereas the NBDs are similar to engines that complete ATP hydrolysis to complete the substrate transport. They can be full transporters consisting of two TMDs and NBDs, half transporters with one TMD and NBD, while some encoded with a single TMD or NBD are...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

The perfect storm: autoinflammation, metabolic stress, and thrombolysis in bilateral carotid dissection-a case report.

Journal of neurology·2026

Same author

Novel <i>NFIX</i> variant in a patient with Malan syndrome and associated Chiari type I malformation: a case report.

Frontiers in pediatrics·2026

Same author

Heterozygous CECR2 variants support a distinct neurodevelopmental syndrome with features overlapping cat eye syndrome.

HGG advances·2026

Same author

Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

European journal of human genetics : EJHG·2026

Same author

Recurrent fever and association with severe organ involvement, mortality and treatment outcomes in VEXAS syndrome: data from the AIDA Network.

Frontiers in immunology·2026

Same author

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Nature genetics·2026

Same journal

Interplay between genomic architecture alterations and GDF6 regulation: a candidate mechanism in Nablus mask-like facial syndrome.

HGG advances·2026

Same journal

Pediatric High-Grade Gliomas and Cancer Predisposition Syndromes: A Retrospective Study.

HGG advances·2026

Same journal

Multi-ancestry genome-wide association meta-analysis of hepatocellular carcinoma identifies eight risk loci including MAP3K9, DHRS1, MTTP, and 8q24.21.

HGG advances·2026

Same journal

A Pseudotime-Dependent TWAS Framework Identifies Disease Genes along Cell Developmental Paths.

HGG advances·2026

Same journal

A lethal form of ASCC3 disease: severe global developmental delay, axial hypotonia, hypoplasia of corpus callosum, hypothyroidism and micropenis.

HGG advances·2026

Same journal

Clustered monoallelic mosaicism in twins suggests previously unrecognized path of mutagenesis.

HGG advances·2026

See all related articles

Search research articles

Related Experiment Video

Updated: Jun 27, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Expanding the ABCA2-associated neurodevelopmental phenotype.

Kaisa T Oja¹, Karit Reinson¹, Mihkel Ilisson¹

¹Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, 50406, Estonia; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, 50406, Estonia.

|June 26, 2026

Summary

This summary is machine-generated.

This study investigates ATP-binding cassette subfamily A member 2 (ABCA2) gene variants in 17 individuals. Four ABCA2 variants showed impaired transporter function, suggesting a role in disease, but further research is needed.

Keywords:

ABCA2 cell viability assay neurodevelopmental disorder untargeted metabolomics

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells (NPCs)

Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells (NPCs)

Published on: March 2, 2018

Related Experiment Videos

Last Updated: Jun 27, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells (NPCs)

Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells (NPCs)

Published on: March 2, 2018

Area of Science:

Genetics
Molecular Biology
Biochemistry

Background:

The ATP-binding cassette subfamily A member 2 (ABCA2) gene encodes a transporter protein.
Biallelic loss-of-function variants in ABCA2 are linked to intellectual disability.

Purpose of the Study:

To define the phenotypic spectrum of individuals with monoallelic (MV) or biallelic (BV) ABCA2 variants.
To investigate the functional impact of specific ABCA2 variants.

Main Methods:

Clinical data collection via questionnaires and literature review.
Homology modeling for ABCA2 protein structure.
Untargeted plasma metabolomics.
Cell viability assays using a docetaxel toxicity model with wild-type and variant ABCA2.

Main Results:

Seventeen individuals with candidate ABCA2 variants (7 MV, 10 BV) were identified.
Protein modeling indicated significant impact for 8 of 13 variants.
Wild-type ABCA2 expression reduced docetaxel-induced cell death, while four variants (p.Asp615Glu, p.Phe754Ser, p.Ile786del, p.Arg926Trp) did not, suggesting loss of function.
Metabolomics showed a trend toward lower polyunsaturated acylcarnitines in samples from individuals with ABCA2 variants.

Conclusions:

This study characterizes 17 individuals with candidate ABCA2 variants.
Four specific ABCA2 variants exhibit altered transporter function.
Further investigation is required to elucidate the pathomechanism and clinical significance of ABCA2 variants.