An in-frame deletion of codon 298 of the NADH-cytochrome b5 reductase gene results in hereditary methemoglobinemia type II (generalized type). A functional implication for the role of the COOH-terminal region of the enzyme.

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Article

An in-frame deletion of codon 298 of the NADH-cytochrome b5 reductase gene results in hereditary methemoglobinemia type II (generalized type). A functional implication for the role of the COOH-terminal region of the enzyme.

The Journal of biological chemistry - 25 Feb 1994

Shirabe K, Fujimoto Y, Yubisui T, Takeshita M

Abstract excerpt

The nucleotide sequence was determined for the gene of NADH-cytochrome b5 reductase of a patient of type II hereditary methemoglobinemia found in Yokohama, Japan. An in-frame deletion of 3 base pairs corresponding to codon 298 (TTC) was identified in the patient. The patient was homozygous for the mutation as shown by hybridization experiments using allele-specific oligonucleotides. The mutation causes deletion...

Topics

Adolescent
Amino Acid Sequence
Base Sequence
Catalysis
Circular Dichroism
Codon
Cytochrome Reductases
Cytochrome-B(5) Reductase
Enzyme Stability
Hot Temperature

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Male

Methemoglobinemia

Molecular Sequence Data

Mutation

Oligodeoxyribonucleotides

Sequence Deletion

Source

Open in PubMed

Identifiers

PMID: 8119939

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8119939-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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