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).
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.
Belongs to the CTL (choline transporter-like) family.
Expressed in various cells of the hematopoietic system.
CD92, CDW92, CTL1, SLC44A1, Choline transporter-like protein 1, CDw92, Solute carrier family 44 member 1
Proteins
Immunology & Infectious Disease
73302Da
We found 7 products in 2 categories
ab217626
ab221460
ab110767
ab198252