WormBase Tree Display for Disease_model_annotation: WBDOannot00000049
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| WBDOannot00000049 | Disease_term | DOID:74 | |||
|---|---|---|---|---|---|
| Disease_of_species | Homo sapiens | ||||
| Modeled_by | Disease_relevant_gene | WBGene00007848 | |||
| Association_type | is_implicated_in | ||||
| Evidence_code | GO_code | ISO | |||
| ECO_term | ECO:0000266 | ||||
| Genetic_sex | hermaphrodite | ||||
| Paper_evidence | WBPaper00053474 | ||||
| Disease_model_description | cytb-5.1 encodes a protein orthologous to cytochrome b5, specifically to the human gene CYB5A (microsomal) and CYB5B (outer mitochondrial membrane); mutations in human CYB5A are implicated in Methemoglobinemia, an inherited blood disorder characterized by increased levels of an atypical form of hemoglobin that is unable to deliver oxygen efficiently. C. elegans serves as a model for uncovering pathways for trafficking heme within and between cells. | ||||
| DB_info | Database | OMIM | gene | OMIM:613218 | |
| Curator_confirmed | WBPerson324 | ||||
| Date_last_updated | 09 May 2023 00:00:00 |
