Lack of the human choline transporter-like protein SLC44A2 causes hearing impairment and a rare red blood phenotype.

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 f

SUBMITTER: Koehl B 

PROVIDER: S-EPMC9994479 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature