SLC44A1 Chromosome 9
Solute carrier family 44 member 1
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What This Gene Does
Enables choline transmembrane transporter activity and ethanolamine transmembrane transporter activity. Involved in choline transport; ethanolamine transport; and transmembrane transport. Located in several cellular components, including cytosol; mitochondrial outer membrane; and nucleoplasm. Implicated in high grade glioma. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"CD molecules|Solute carrier family 44"
Locus Type
gene with protein product
Location
9q31.1-q31.2
Ensembl
ENSG00000070214
Associated Conditions (7)
Neurodevelopmental disorder
Neurodegeneration
childhood-onset
with ataxia
tremor
optic atrophy
and cognitive decline
Key Variants
RS1018350024
Conflicting classifications of pathogenicity
Health Risk
RS1588833694
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS1826893287
Pathogenic
Neurodegeneration, childhood-onset, with ataxia
Health Risk
RS1827827098
Pathogenic
Health Risk
RS1828218629
Pathogenic
Neurodegeneration, childhood-onset, with ataxia
Health Risk
RS2538237773
Pathogenic
Neurodegeneration, childhood-onset, with ataxia
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1018350024 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1588833694 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS1826893287 | Health Risk | Pathogenic | Neurodegeneration, childhood-onset, with ataxia |
| RS1827827098 | Health Risk | Pathogenic | — |
| RS1828218629 | Health Risk | Pathogenic | Neurodegeneration, childhood-onset, with ataxia |
| RS2538237773 | Health Risk | Pathogenic | Neurodegeneration, childhood-onset, with ataxia |