Coiled-coil domain containing protein 149 (CCDC149)

Coiled-coil domain containing protein 149 (CCDC149) is a human protein encoded by the CCDC149 gene. It is highly conserved and encodes a protein containing a coiled-coil domain, which typically mediates protein-protein interactions. While its function in humans is currently unknown, studies in C. elegans suggest it may localize to the ciliary base and be expressed in neurons, with potential links to ciliary biology. Recently, a rare likely pathogenic homozygous mutation was reported in two siblings with congenital hypopituitarism, intellectual disability, and obesity, suggesting a possible but unconfirmed disease association. This genetic disease role is based on a single study, and additional investigation is required to confirm any direct pathogenic mechanisms in humans. No known drugs target CCDC149, and it is not considered a validated therapeutic target at this time. There is no evidence CCDC149 serves as a receptor, enzyme, or other classic therapeutic target class. No drugs, mechanisms of action, or biomarker uses are described or validated for CCDC149. The gene is indexed under NCBI Gene ID 91050, Ensembl: ENSG00000181982, and UniProt: Q6ZUS6. If more precise molecular or therapeutic data emerges in future research, these designations may change.

Other names

DKFZp761B107CCDC149coiled-coil domain-containing protein 149