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

AQP3 deficiency in humans and the molecular basis of a novel blood group system, GIL.

The Journal of biological chemistry - 29 Nov 2002

Roudier Nathalie, Ripoche Pierre, Gane Pierre, Le Pennec Pierre Yves, Daniels Geoff, Cartron Jean-Pierre, Bailly Pascal

Abstract excerpt

AQP3 is a water and glycerol channel present on human erythrocytes and in various tissues. By protein and molecular biology analysis, two unrelated probands who developed alloantibodies to the high frequency antigen GIL were found to be AQP3-deficient. The defect is caused by homozygous mutation affecting the 5' donor splice site of intron 5 of the AQP3 gene. This mutation causes the skipping of exon 5 and...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to Aquaporins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Blood Group Antigens

Share to COS Cells

Share to Erythrocytes

Share to Flow Cytometry

Share to Glycerol

Share to Sequence Homology, Amino Acid

Source

Identifiers

PMID: 12239222
DOI: 10.1074/jbc.M208999200

Genes

AQP3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

AQP3 deficiency in humans and the molecular basis of a novel blood group system, GIL.PMID 12239222Read ↗

Genetic conservation of the GIL blood group determining aquaporin 3 gene in African and Caucasian populations.Semantic proximity Read ↗

Band 3 and its alterations in health and disease.Semantic proximity Read ↗

A functional AQP1 allele producing a Co(a-b-) phenotype revises and extends the Colton blood group system.Semantic proximity Read ↗

A new AQP1 null allele identified in a Gypsy woman who developed an anti-CO3 during her first pregnancy.Semantic proximity Read ↗

Structure-function relationships of band 3 variants.Semantic proximity Read ↗

Characterization of seven low incidence blood group antigens carried by erythrocyte band 3 protein.Semantic proximity Read ↗

An AQP1 allele associated with co(a-b-) phenotype.Semantic proximity Read ↗

The structure and function of band 3 (AE1): Recent developments (Review)Semantic proximity Read ↗

The N-terminal 11 amino acids of human erythrocyte band 3 are critical for aldolase binding and protein phosphorylation: implications for band 3 function.Semantic proximity Read ↗

Band 3 Courcouronnes (Ser667Phe): a trafficking mutant differentially rescued by wild-type band 3 and glycophorin A.Semantic proximity Read ↗

An AQP1 null allele in an Indian woman with Co(a-b-) phenotype and high-titer anti-Co3 associated with mild HDN.Semantic proximity Read ↗

Molecular basis of human band-3 mutation associated with increased anion transport.Semantic proximity Read ↗

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