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

Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene.

Genomics - 15 May 1997

Murakami T, Reiter L T, Lupski J R

Abstract excerpt

Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with a 1.5-Mb tandem DNA duplication in chromosome 17p11.2-p12, while hereditary neuropathy with liability to pressure palsies (HNPP) is associated with a 1.5-Mb deletion at this locus. The 1.5-Mb CMT1A monomer unit duplicated in CMT1A and deleted in HNPP is flanked by two 24-kb direct repeats termed the CMT1A-REPs. Recently, sequence analysis of the...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Chromosome Mapping
Share to DNA Primers

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

Share to Gene Expression

Share to Molecular Sequence Data

Share to Mutation

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 9177788
DOI: 10.1006/geno.1997.4711

Genes

COX10

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

Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene.PMID 9177788Read ↗

Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency.Semantic proximity Read ↗

Complete sequencing of full-length canine ataxia telangiectasia mutated mRNA and characterization of its putative promoter.Semantic proximity Read ↗

Human Mitochondrial C1-Tetrahydrofolate SynthaseSemantic proximity Read ↗

Phenotypic associations with the <i>HMOX1</i> GT(n) promoter repeat in European populationsSemantic proximity Read ↗

Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.Semantic proximity Read ↗

COA8 is a COX10-binding protein involved in the early biogenesis of cytochrome c oxidaseSemantic proximity Read ↗

Protoporphyrinogen oxidase: complete genomic sequence and polymorphisms in the human gene.Semantic proximity Read ↗

Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: Comparison with the interphase FISH MethodSemantic proximity Read ↗

Molecular cloning of the gene for the human prostaglandin transporter hPGT: gene organization, promoter activity, and chromosomal localization.Semantic proximity Read ↗

Genomic organization, promoter activity, and expression of the human choline transporter-like protein 1Semantic proximity Read ↗

Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene.Semantic proximity Read ↗

Tissue-specific expression and chromosome assignment of genes specifying two isoforms of subunit VIIa of human cytochrome c oxidaseSemantic proximity Read ↗

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