Emopamil-binding protein-like (EBPL)

Emopamil-binding protein-like (EBPL) is a human protein encoded by the EBPL gene on chromosome 13q14.2. It shares moderate sequence homology with emopamil-binding protein (EBP), a known sterol delta8-delta7 isomerase involved in cholesterol biosynthesis. Unlike EBP, EBPL lacks detectable sterol isomerase and sigma-ligand binding activity, as confirmed by heterologous expression studies and functional analyses. Most residues required for isomerase activity are conserved in EBPL, but key differences preclude catalytic function. EBPL is ubiquitously expressed, with highest mRNA levels in liver, lung, and kidney. Frameshift mutations in EBPL have been detected in microsatellite unstable tumors; resultant neopeptides are rapidly degraded via the proteasome, suggesting the protein is tightly regulated. The physiological function of EBPL remains unknown, and it has not been linked to specific diseases or therapeutic agents. The protein is classified as "other" in molecular terms due to its unclear function and lack of canonical receptor, enzyme, transporter, or transcription factor activity.

Other names

EBPLEBRPERPEmopamil-binding-related proteinDelta8-delta7 sterol isomerase-related proteinemopamil-binding protein-likeemopamil binding related protein