Cblif-flox Mouse

Cblif, related to the transport of vitamin B12 (cobalamin, Cbl), is crucial in the complex process of Cbl assimilation by the organism. During Cbl absorption, Cbl is consecutively bound to two glycoproteins, Hc and intrinsic factor (IF). Cbl bound to Hc in the stomach is transferred to IF after the action of pancreatic trypsin, and the Cbl-IF complex is absorbed in the terminal ileum, forming an enterohepatic cycle [2].

In a study assessing the association between polymorphisms within genes involved in vitamin B12 transport and nonsyndromic cleft lip with or without cleft palate (NSCL/P) in Chile, variant genotypes for CBLIF were obtained from a single nucleotide polymorphisms array. However, after multiple comparison corrections, only rs780807 in CUBN remained associated with NSCL/P, and no functional evidence for rs780807 in CUBN was found, indicating that further studies are needed to explain the relations with the phenotype and DNA methylation [1].

In conclusion, Cblif is essential in the vitamin B12 transport pathway, contributing to the complex process of Cbl assimilation. Although the study on the association between CBLIF polymorphisms and NSCL/P did not yield significant direct associations, it highlights the need for more research to understand Cblif's role in relation to this condition, potentially providing insights into the molecular mechanisms underlying NSCL/P.