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SMAJI
Chr 7ADglycyl-tRNA synthetase 1
Also known as: CMT2D, DSMAV, GARS, GlyRS, HMN5, HMN5A, HMND5, SMAD1
This gene encodes glycyl-tRNA synthetase, an enzyme that charges tRNA molecules with glycine during protein synthesis. Mutations cause spinal muscular atrophy, infantile, James type, with autosomal dominant inheritance. The condition presents in infancy and primarily affects the motor neuron system.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SMAJI?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SMAJI · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools