Hereditary elliptocytosis due to both qualitative and quantitative defects in membrane skeletal protein 4.1.

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Article

Hereditary elliptocytosis due to both qualitative and quantitative defects in membrane skeletal protein 4.1.

Blood - 1 Nov 1991

Conboy J G, Shitamoto R, Parra M, Winardi R, Kabra A, Smith J, Mohandas N

Abstract excerpt

Protein 4.1 is an important structural component of the membrane skeleton that helps determine erythrocyte morphology and membrane mechanical properties. In a previous study we identified a case of human hereditary elliptocytosis (HE) in which decreased membrane mechanical stability was due to deletion of 80 amino acids encompassing the entire 10-Kd spectrin-actin binding domain. A portion of this domain (21...

Topics

Amino Acid Sequence
Animals
Base Sequence
Blotting, Western
Cytoskeletal Proteins
Cytoskeleton
DNA
Dogs
Elliptocytosis, Hereditary
Erythrocyte Membrane
Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Membrane Proteins

Molecular Sequence Data

Mutation

Neuropeptides

Polymerase Chain Reaction

RNA, Messenger

Source

Open in PubMed

Identifiers

PMID: 1932756

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1932756-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Hereditary elliptocytosis due to both qualitative and quantitative defects in membrane skeletal protein 4.1.PMID 1932756Read ↗

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