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SPATCCM
Chr 2ARsolute carrier family 1 member 4
Also known as: ASCT1, SATT, SPATCCM
The protein is a sodium-dependent neutral amino acid transporter that facilitates uptake of alanine, serine, cysteine, and threonine. Mutations cause spastic tetraplegia with thin corpus callosum and progressive microcephaly, involving both the central nervous system motor pathways and brain structural development. The condition follows autosomal recessive inheritance.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SPATCCM?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
SPATCCM · 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
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Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools