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LEPID

Chr 16AR

lysyl-tRNA synthetase 1

Also known as: CMTRIB, DEAPLE, DFNB89, KARS, KARS2, KRS, LEPID

Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Lysyl-tRNA synthetase is a homodimer localized to the cytoplasm which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Leukoencephalopathy, progressive, infantile-onset, with or without deafnessMIM #619147
AR

Clinical highlights

Gene–disease validity
Not independently assessedOMIM lists Leukoencephalopathy, progressive, infantile-onset, with or without deafness; no ClinGen or GenCC tier
0
Active trials
0
Pubs (1 yr)
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P/LP submissions
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P/LP missense
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LOEUF
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Mechanism
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/LEPID?content-type=application/json

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

LEPID · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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