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COX4I2 - cytochrome c oxidase subunit 4I2
- Synonym(s) : COX4-2, COX4B, COXIV-2, cytochrome c oxidase subunit IV-like 2, dJ857M17.2
- Previous symbols and names : COX4L2, cytochrome c oxidase subunit IV isoform 2, cytochrome c oxidase subunit IV isoform 2 (lung)
- Type : gene with protein product
- Chromosomal location : 20q11.21
- OMIM: 607976
- HGNC: 16232
- UniProtKB: Q96KJ9
- Genatlas: COX4I2
- Ensembl: ENSG00000131055
- IUPHAR-DB: -
- Reactome: -
- LOVD: COX4I2
Diseases list
- Disease-causing germline mutation(s) in Pancreatic insufficiency-anemia-hyperostosis syndrome
ORPHA:199337 
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Health care resources for this gene
Research activities on this gene
Specialised Social Services
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