A novel mutation in the erythrocyte protein 4.2 gene of Japanese patients with hereditary spherocytosis (protein 4.2 Fukuoka).

doi:10.1111/j.1365-2141.1994.tb05069.x

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Article

A novel mutation in the erythrocyte protein 4.2 gene of Japanese patients with hereditary spherocytosis (protein 4.2 Fukuoka).

British journal of haematology - 1 Nov 1994

Takaoka Y, Ideguchi H, Matsuda M, Sakamoto N, Takeuchi T, Fukumaki Y

Abstract excerpt

Human erythrocyte protein 4.2 (band 4.2; pallidin) is a major membrane protein that comprises 5% of the total weight of the human erythrocyte membrane. Deficiencies of this protein have been observed in hereditary spherocytosis with anaemia, suggesting a role of protein 4.2 in erythrocyte stability and integrity. The molecular basis of this disorder remains unknown. As a first step in elucidating the pathogenesis...

Topics

Adult
Aged
Amino Acid Sequence
Base Sequence
Blood Proteins
Cytoskeletal Proteins
Erythrocyte Membrane
Female
Humans
Japan
Male
Membrane Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Molecular Sequence Data

Mutation

Pedigree

Sequence Analysis, DNA

Spherocytosis, Hereditary

Source

Open in PubMed

Identifiers

PMID: 7819064
DOI: 10.1111/j.1365-2141.1994.tb05069.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7819064-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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A novel mutation in the erythrocyte protein 4.2 gene of Japanese patients with hereditary spherocytosis (protein 4.2 Fukuoka).PMID 7819064Read ↗

An alanine-to-threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia (protein 4.2NIPPON).Semantic proximity Read ↗

Band 4.2 Shiga: 317 CGC-->TGC in compound heterozygotes with 142 GCT-->ACT results in band 4.2 deficiency and microspherocytosis.Semantic proximity Read ↗

Hereditary Red Cell Membrane Disorders in Japan: Their Genotypic and Phenotypic Features in 1014 Cases Studied.Semantic proximity Read ↗

Protein 4.2 Komatsu (D175Y) associated with the lack of interaction with ankyrin in human red blood cells.Semantic proximity Read ↗

Total absence of protein 4.2 and partial deficiency of band 3 in hereditary spherocytosis.Semantic proximity Read ↗

Band 4.2 Komatsu: 523 GAT-->TAT (175 Asp-->Tyr) in exon 4 of the band 4.2 gene associated with total deficiency of band 4.2, hemolytic anemia with ovalostomatocytosis and marked disruption of the cytoskeletal network.Semantic proximity Read ↗

Compound heterozygosity for two novel mutations in the erythrocyte protein 4.2 gene causing spherocytosis in a Caucasian patient.Semantic proximity Read ↗

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The use of real-time PCR technique in the detection of novel protein 4.2 gene mutations that coexist with thalassaemia alpha in a single patient.Semantic proximity Read ↗

Protein 4.2: a complex linker.Semantic proximity Read ↗

Human erythrocyte membrane protein band 4.2 (pallidin).Semantic proximity Read ↗

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