ATP Binding Cassette Transporter D4 (ABCD4) Antibody

Background

ABCD4 is a peroxisomal and lysosomal ATP-binding cassette transporter that facilitates the transport of vitamin B12 (cobalamin) across intracellular membranes, enabling its proper processing and utilization. ABCD4 works in conjunction with lysosomal proteins such as LMBD1 to release vitamin B12 from lysosomes into the cytosol, where it is converted into its active forms, methylcobalamin and adenosylcobalamin, essential for DNA synthesis and energy metabolism. Mutations in ABCD4 are associated with cobalamin deficiency type F, which leads to megaloblastic anemia, neurological symptoms, and other metabolic abnormalities. ABCD4 is expressed in various tissues, with critical roles in maintaining vitamin B12 homeostasis and supporting metabolic pathways dependent on this essential cofactor.