infantile liver failure syndrome 1

Summary
Definition
An infantile liver failure syndrome that has_material_basis_in homozygous mutation in the LARS gene (LARS1) on chromosome 5q32.
Super Class
autosomal recessive disease infantile liver failure syndrome
Disease Ontology
DOID:0080717
Mondo Disease Ontology
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
51520 LARS1 leucyl-tRNA synthetase 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9P2J5 Leucine--tRNA ligase, cytoplasmic

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025