ABCA13

ABCA13 is a gene encoding a member of the ATP-binding cassette transporter A (ABCA) family. ABCA transporters use ATP hydrolysis to move substrates across membranes. The ABCA13-encoded protein is a large, multi-pass membrane protein predicted to contain two nucleotide-binding domains and multiple transmembrane regions, characteristic of ABCA transporters. Its exact cellular localization is not definitively established, but it is thought to reside in endolysosomal or plasma membranes and to participate in intracellular lipid trafficking.

Expression of ABCA13 shows broad distribution in human tissues with notable levels in the brain, adipose tissue, and skin, suggesting roles in lipid handling in diverse cellular contexts.

Functionally, the protein is implicated in lipid transport and homeostasis, including phospholipids and cholesterol. Through its activity, ABCA13 may influence membrane lipid composition, lipid droplet formation, and the organization of membrane microdomains important for signaling.

Clinical relevance: Genetic studies have reported associations between ABCA13 variants and neuropsychiatric conditions such as schizophrenia and bipolar disorder in some populations, as well as metabolic traits in others. However, findings are not yet conclusive, and functional data clarifying causal relationships are limited.

Research and tools: Current research uses genomic association studies, expression profiling, and functional analysis in cell lines or animal models to probe ABCA13's role in lipid transport and disease.