Ankyrin repeat domain-containing protein 40 (ANKRD40)

Ankyrin repeat domain-containing protein 40 (ANKRD40) is encoded by the ANKRD40 gene in humans. It is characterized by multiple ankyrin repeat motifs, which are structural domains that mediate specific protein-protein interactions. Proteins with ankyrin repeats often participate in functions such as cell signaling, transcriptional regulation, cytoskeletal organization, and developmental processes. ANKRD40 itself has not been identified as an enzyme, receptor, ion channel, or transporter; rather, it is classified among scaffold or adaptor proteins with potential regulatory roles. It is co-expressed with many genes and has thousands of statistical functional associations in molecular profiling datasets, but its direct biological mechanism is not well-defined. Some bioinformatic and transcriptomic studies have linked ANKRD40 expression to neurodevelopmental disorders, suggesting it may be associated with neurological phenotypes, possibly through its interaction capacity within protein complexes. However, no distinct disease-causing mutations or drug interactions have been reported for ANKRD40 as of now. Therefore, ANKRD40 is not considered a validated therapeutic target. Its molecular classification is 'Other: ankyrin repeat domain-containing protein,' reflecting its status as a scaffold/module for protein binding, rather than a canonical therapeutic target class. There is no evidence for misspelling or alias confusion within main databases, and information is complete and accurate per current references. ANKRD40 is associated with the HGNC ankyrin repeat domain containing (ANKRD) family. Functional associations with disease pathways and phenotypes are based on co-expression and computational analyses, not direct experimental validation or clinical targeting. In summary, ANKRD40 is a human adaptor/structural protein with potential roles in neurodevelopment but is not a therapeutic target, enzyme, receptor, or biomarker at present.

Other names

Ankyrin repeat domain 40ANKRD40MGC15396ankyrin repeat domain-containing protein 40