SLC44A1
Function
Choline/H+ antiporter (PubMed:19357133, PubMed:23651124, PubMed:31855247, PubMed:33789160). Also acts as a high-affinity ethanolamine/H+ antiporter, regulating the supply of extracellular ethanolamine (Etn) for the CDP-Etn pathway, redistribute intracellular Etn and balance the CDP-Cho and CDP-Etn arms of the Kennedy pathway (PubMed:33789160). Involved in membrane synthesis and myelin production (PubMed:31855247).
Involvement in disease
Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
CONATOC
An autosomal recessive neurodegenerative disease characterized by progressive ataxia, tremor, cognitive decline, dysphagia, optic atrophy, dysarthria, as well as urinary and bowel incontinence. Brain MRI demonstrates cerebellar atrophy and leukoencephalopathy.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the CTL (choline transporter-like) family.
Tissue Specificity
Expressed in various cells of the hematopoietic system.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
- Mitochondrion outer membrane
- Multi-pass membrane protein
Alternative names
CD92, CDW92, CTL1, SLC44A1, Choline transporter-like protein 1, CDw92, Solute carrier family 44 member 1