| http://purl.uniprot.org/citations/8661044 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8661044 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8661044 | http://www.w3.org/2000/01/rdf-schema#comment | "Microphthalmia with linear skin defects syndrome (MLS) is an X-linked male-lethal disorder associated with X chromosomal rearrangements resulting in monosomy from Xpter to Xp22. Features include micro-phthalmia, sclerocornea, linear skin defects, and agenesis of the corpus callosum. Using a cross-species conservation strategy, an expressed sequence from the 450-to the 550-kb MLS critical region on Xp22 was identified by screening a human embryo cDNA library. Northern analysis revealed a transcript of approximately 2.6 kb in all tissues examined, with weaker expression of approximately 1.2- and approximately 5.2-kb transcripts. The strongest expression was observed in heart and skeletal muscle. Sequence analysis of a 3-kb cDNA contig revealed an 807-bp open reading frame encoding a putative 268-amino-acid protein. Comparison of the sequence with sequences in the databases revealed homology with holocytochrome c-type synthetases, which catalyze the covalent addition of a heme group onto c-type cytochromes in the mitochondria. The c-type cytochromes are required for proper functioning of the electron transport pathway. The human gene (HGMW-approved symbol HCCS) and the corresponding murine gene characterized in this paper are the first mammalian holocytochrome c-type synthetases to be described in the literature. Because of the lack of a neuromuscular phenotype in MLS, it is uncertain whether the deletion of a mitochondrial holocytochrome synthetase would contribute to the phenotype seen in MLS. The expression pattern of this gene and knowledge about the function of holocytochrome synthetases, however, suggest that it is a good candidate for X-linked encephalomyopathies typically associated with mitochondrial dysfunction."xsd:string |
| http://purl.uniprot.org/citations/8661044 | http://purl.org/dc/terms/identifier | "doi:10.1006/geno.1996.0261"xsd:string |
| http://purl.uniprot.org/citations/8661044 | http://purl.org/dc/terms/identifier | "doi:10.1006/geno.1996.0261"xsd:string |
| http://purl.uniprot.org/citations/8661044 | http://purl.uniprot.org/core/author | "Ballabio A."xsd:string |
| http://purl.uniprot.org/citations/8661044 | http://purl.uniprot.org/core/author | "Ballabio A."xsd:string |
| http://purl.uniprot.org/citations/8661044 | http://purl.uniprot.org/core/author | "Schaefer L."xsd:string |
| http://purl.uniprot.org/citations/8661044 | http://purl.uniprot.org/core/author | "Schaefer L."xsd:string |
| http://purl.uniprot.org/citations/8661044 | http://purl.uniprot.org/core/author | "Zoghbi H.Y."xsd:string |
| http://purl.uniprot.org/citations/8661044 | http://purl.uniprot.org/core/author | "Zoghbi H.Y."xsd:string |
| http://purl.uniprot.org/citations/8661044 | http://purl.uniprot.org/core/date | "1996"xsd:gYear |
| http://purl.uniprot.org/citations/8661044 | http://purl.uniprot.org/core/date | "1996"xsd:gYear |
| http://purl.uniprot.org/citations/8661044 | http://purl.uniprot.org/core/name | "Genomics"xsd:string |
| http://purl.uniprot.org/citations/8661044 | http://purl.uniprot.org/core/name | "Genomics"xsd:string |
| http://purl.uniprot.org/citations/8661044 | http://purl.uniprot.org/core/pages | "166-172"xsd:string |
| http://purl.uniprot.org/citations/8661044 | http://purl.uniprot.org/core/pages | "166-172"xsd:string |
| http://purl.uniprot.org/citations/8661044 | http://purl.uniprot.org/core/title | "Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS)."xsd:string |
| http://purl.uniprot.org/citations/8661044 | http://purl.uniprot.org/core/title | "Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS)."xsd:string |
| http://purl.uniprot.org/citations/8661044 | http://purl.uniprot.org/core/volume | "34"xsd:string |
| http://purl.uniprot.org/citations/8661044 | http://purl.uniprot.org/core/volume | "34"xsd:string |
| http://purl.uniprot.org/citations/8661044 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/8661044 |
| http://purl.uniprot.org/citations/8661044 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/8661044 |
| http://purl.uniprot.org/citations/8661044 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/8661044 |
| http://purl.uniprot.org/citations/8661044 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/8661044 |