Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia.

American journal of human genetics - 2 May 2013

Dirami Thassadite, Rode Baptiste, Jollivet Mathilde, Da Silva Nathalie, Escalier Denise, Gaitch Natacha, Norez Caroline, Tuffery Pierre, Wolf Jean-Philippe, Becq Frédéric, Ray Pierre F, Dulioust Emmanuel, Gacon Gérard, Bienvenu Thierry, Touré Aminata

Abstract excerpt

The cystic fibrosis transmembrane conductance regulator (CFTR) is present in mature sperm and is required for sperm motility and capacitation. Both these processes are controlled by ions fluxes and are essential for fertilization. We have shown that SLC26A8, a sperm-specific member of the SLC26 family of anion exchangers, associates with the CFTR channel and strongly stimulates its activity. This suggests that...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Anion Transport Proteins
Share to Antiporters

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Asthenozoospermia

Share to CHO Cells

Share to Cricetulus

Share to Sperm Motility

Share to Spermatozoa

Share to Sulfate Transporters

Source

Open in PubMed Open full text

Identifiers

PMID: 23582645
DOI: 10.1016/j.ajhg.2013.03.016
PMCID: PMC3644633

Genes

CFTR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia.PMID 23582645Read ↗

Novel biallelic mutations in SLC26A8 cause severe asthenozoospermia in humans owing to midpiece defects: Insights into a putative dominant genetic disease.Semantic proximity Read ↗

Sperm Ion Transporters and Channels in Human Asthenozoospermia: Genetic Etiology, Lessons from Animal Models, and Clinical PerspectivesSemantic proximity Read ↗

The sodium/proton exchanger SLC9C1 ( sNHE ) is essential for human sperm motility and fertilitySemantic proximity Read ↗

Human asthenozoospermia: Update on genetic causes, patient management, and clinical strategies.Semantic proximity Read ↗

The heterozygous mutations of SLC26A8 are not the main actors for male infertility.Semantic proximity Read ↗

The heterozygous mutations of SLC26A8 are not the main actors but might be the guest players for male infertilitySemantic proximity Read ↗

CFAP74 Variants Could Cause Male Infertility With the Asthenoteratozoospermia Phenotype.Semantic proximity Read ↗

The interactome of cystic fibrosis transmembrane conductance regulator and its role in male fertility: A critical reviewSemantic proximity Read ↗

The testis anion transporter TAT1 (SLC26A8) physically and functionally interacts with the cystic fibrosis transmembrane conductance regulator channel: a potential role during sperm capacitationSemantic proximity Read ↗

Analysis of the correlation of CATSPER single nucleotide polymorphisms (SNPs) with idiopathic asthenospermia.Semantic proximity Read ↗

The testis anion transporter 1 (Slc26a8) is required for sperm terminal differentiation and male fertility in the mouse.Semantic proximity Read ↗

Homozygous mutation in SLO3 leads to severe asthenoteratozoospermia due to acrosome hypoplasia and mitochondrial sheath malformationsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.