ArticleEMBO molecular medicine2023
Lack of the human choline transporter-like protein SLC44A2 causes hearing impairment and a rare red blood phenotype.
Article in EMBO molecular medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5 citing papers in PubMed, 14 citations in OpenAlex.
- The SLC-ome of membrane transport: from molecular discovery to physiology and clinical applications.Physiological reviews · 2026Review
- Prevalence, Patterns, and Factors Associated with Hearing Impairment Among Children and Adolescents with Sickle Cell Disease in Eastern Uganda: A Cross-Sectional Study.International journal of general medicine · 2026Article
- SLC44A2 negatively regulates mitochondrial fatty acid oxidation to suppress colorectal progression by blocking the MUL1-CPT2 interaction.Cell death & disease · 2025Article
- SLC44A2-mediated phenotypic switch of vascular smooth muscle cells contributes to aortic aneurysm.The Journal of clinical investigation · 2024Article
- Lack of the human choline transporter-like protein SLC44A2 causes hearing impairment and a rare red blood phenotype.EMBO molecular medicine · 2023Article
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Authors and funding
20 authors at 7 institutions in 3 countries.
Funding
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Abstract
Blood phenotypes are defined by the presence or absence of specific blood group antigens at the red blood cell (RBC) surface, due to genetic polymorphisms among individuals. The recent development of genomic and proteomic approaches enabled the characterization of several enigmatic antigens. The choline transporter-like protein CTL2 encoded by the SLC44A2 gene plays an important role in platelet aggregation and neutrophil activation. By investigating alloantibodies to a high-prevalence antigen of unknown specificity, found in patients with a rare blood type, we showed that SLC44A2 is also expressed in RBCs and carries a new blood group system. Furthermore, we identified three siblings homozygous for a large deletion in SLC44A2, resulting in complete SLC44A2 deficiency. Interestingly, the first-ever reported SLC44A2-deficient individuals suffer from progressive hearing impairment, recurrent arterial aneurysms, and epilepsy. Furthermore, SLC44A2
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