Chediak-Higashi syndrome
Phenotype Details
- Phene ID
- 365
- Name
- Chediak-Higashi syndrome
- Phene Name
- N/A
- OMIA ID
- 185
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 1999
Linked Genes
| Symbol | Gene ID | Chromosome | Description |
|---|---|---|---|
| LYST | 281072 | 28 | lysosomal trafficking regulator |
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 183 | Chediak-Higashi syndrome | 281072 | 1 | 28 | NC_037355.1:g.8464077T>C | NM_174020.2:c.6044A>G | NP_776445.1:p.(H2015R) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Japanese Black, Japan (Cattle) | 31 | 9913 | http://purl.obolibrary.org/obo/VBO_0004987 |
Molecular Genetics
By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Kunieda et al. (1999) identified a missense mutation (A to G) in the bovine LYST gene, producing an amino-acid substitution of histidine to arginine (H2015R) in the resultant peptide.