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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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SLC44A1
solute carrier family 44 member 1
Chromosome 9 Β· 9q31.1-q31.2
NCBI Gene: 23446Ensembl: ENSG00000070214.18HGNC: HGNC:18798UniProt: Q8WWI5
57PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
choline transmembrane transporter activityplasma membranemitochondrionmitochondrial outer membraneneurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive declinebenign chondrogenic neoplasmadrenal gland hyperfunctionhyperaldosteronism
✦AI Summary

SLC44A1 encodes a choline/H+ antiporter that mediates Na+-independent choline transport across cell membranes 1. Beyond choline, SLC44A1 functions as a high-affinity ethanolamine/H+ antiporter, regulating extracellular ethanolamine supply for the CDP-ethanolamine pathway and balancing the Kennedy pathway's phosphatidylcholine and phosphatidylethanolamine arms 2. The transporter is enriched in oligodendrocytes and is essential for CNS myelination; SLC44A1 deficiency impairs oligodendroglial maturation and phospholipid biosynthesis, disrupting myelin lipid composition 3. Clinically, SLC44A1 mutations cause childhood-onset neurodegeneration featuring cerebellar atrophy, leukoencephalopathy, and cognitive decline 4. Importantly, citicoline supplementation restores developmental myelination in SLC44A1-deficient models, suggesting a potential therapeutic approach 3. Additionally, SLC44A1-PRKCA chr9 fusions characterize papillary glioneuronal tumors, a rare CNS neoplasm, serving as a specific diagnostic marker 5. In cancer, elevated SLC44A1 expression enables tumor cells to compete with immune cells for choline, promoting immune evasion and tumor-associated macrophage repolarization 6. Thus, SLC44A1 plays critical roles in membrane synthesis, neuronal development, and immune regulation.

Sources cited
1
SLC44A1 is a choline transporter with intermediate affinity for choline; transport is Na+-independent and sensitive to hemicholinium-3 inhibition
PMID: 22483272
2
SLC44A1 mutations cause choline-related inherited metabolic diseases with broad phenotypic spectrum including neurological manifestations
PMID: 30681159
3
SLC44A1 is enriched in oligodendrocytes and required for CNS myelination; deficiency impairs oligodendroglial maturation and phospholipid biosynthesis; citicoline supplementation restores myelination
PMID: 41317319
4
SLC44A1 homozygous truncating variants identified in neurodevelopmental disorder families as novel candidate disease gene
PMID: 28097321
5
SLC44A1-PRKCA fusion is the defining molecular feature of papillary glioneuronal tumors, serving as a diagnostic biomarker
PMID: 22725730
6
Elevated SLC44A1 enables tumor cells to compete with immune cells for choline, promoting immune evasion and tumor-associated macrophage repolarization
PMID: 40911779
Disease Associationsβ“˜21
neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive declineOpen Targets
0.64Moderate
benign chondrogenic neoplasmOpen Targets
0.29Weak
adrenal gland hyperfunctionOpen Targets
0.27Weak
hyperaldosteronismOpen Targets
0.27Weak
Neurodevelopmental disorderOpen Targets
0.27Weak
osteoarthritis, kneeOpen Targets
0.20Weak
Abruptio PlacentaeOpen Targets
0.20Weak
Puerperal InfectionOpen Targets
0.20Weak
metabolic diseaseOpen Targets
0.18Weak
osteoarthritis, hipOpen Targets
0.17Weak
Familial exudative vitreoretinopathyOpen Targets
0.05Suggestive
alcohol drinkingOpen Targets
0.04Suggestive
exudative vitreoretinopathyOpen Targets
0.04Suggestive
Familial ocular anterior segment mesenchymal dysgenesisOpen Targets
0.04Suggestive
Norrie diseaseOpen Targets
0.04Suggestive
cancerOpen Targets
0.04Suggestive
oral squamous cell carcinomaOpen Targets
0.03Suggestive
isolated familial wooly hair disorderOpen Targets
0.03Suggestive
Woolly hairOpen Targets
0.03Suggestive
MORM syndromeOpen Targets
0.03Suggestive
Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive declineUniProt
Pathogenic Variants6
NM_080546.5(SLC44A1):c.588del (p.Ser196fs)Pathogenic
Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
β˜…β˜†β˜†β˜†2022β†’ Residue 196
NM_080546.5(SLC44A1):c.1053C>G (p.Tyr351Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 351
NM_080546.5(SLC44A1):c.1009C>T (p.Gln337Ter)Likely pathogenic
Neurodevelopmental disorder
β˜…β˜†β˜†β˜†2019β†’ Residue 337
NM_080546.5(SLC44A1):c.377_380del (p.Ser126fs)Pathogenic
Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
β˜†β˜†β˜†β˜†2021β†’ Residue 126
NM_080546.5(SLC44A1):c.1549del (p.Asp517fs)Pathogenic
Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
β˜†β˜†β˜†β˜†2020β†’ Residue 517
NM_080546.5:c.126+5161_270-2343delPathogenic
Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
β˜†β˜†β˜†β˜†2020
View on ClinVar β†—
Related Genes
SLC44A5Shared pathway75%SLC44A3Shared pathway75%SLC44A4Shared pathway60%SLC44A2Shared pathway60%FLVCR2Shared pathway50%SLCO1C1Shared pathway33%
Tissue Expression6 tissues
Brain
100%
Liver
44%
Bone Marrow
31%
Lung
27%
Heart
21%
Ovary
18%
Gene Interaction Network
Click a node to explore
SLC44A1SLC44A5SLC44A3SLC44A4SLC44A2FLVCR2SLCO1C1
PROTEIN STRUCTURE
Preparing viewer…
PDB9QU3 Β· 3.20 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.44Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.27 [0.17–0.44]
RankingsWhere SLC44A1 stands among ~20K protein-coding genes
  • #8,014of 20,598
    Most Researched57
  • #3,388of 5,498
    Most Pathogenic Variants6
  • #2,376of 17,882
    Most Constrained (LOEUF)0.44 Β· top quartile
Genes detectedSLC44A1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
PMID: 28097321
JAMA Psychiatry Β· 2017
1.00
2
ChREBP-Mediated Choline Deprivation and Chemokine Secretion Shape Tumor-Associated Macrophages to Promote Immune Evasion.
PMID: 40911779
Cancer Res Β· 2025
0.90
3
The ubiquitous choline transporter SLC44A1.
PMID: 22483272
Cent Nerv Syst Agents Med Chem Β· 2012
0.80
4
SLC44A1 deficiency impedes myelin development in the central nervous system.
PMID: 41317319
Cell Rep Β· 2025
0.70
5
Papillary glioneuronal tumors: histological and molecular characteristics and diagnostic value of SLC44A1-PRKCA fusion.
PMID: 26671581
Acta Neuropathol Commun Β· 2015
0.60