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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



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD14623Q9Y276617
BCS1L
Mitochondrial chaperone BCS1
Homo sapiens