※ PTMD 2.0 database Online Browse Options
Browse result for GRACILE syndrome
※ introduction A mitochondrial disorder characterized by fetal growth restriction, aminoaciduria, cholestasis, iron overload, lactocidosis, and early death that has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35.
Reference
DiseaseOntology: GRACILE syndrome
Reference
DiseaseOntology: GRACILE syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD14623 | Q9Y276 | 617 | BCS1L | Mitochondrial chaperone BCS1 | Homo sapiens |
