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TLC domain containing 3B (TLCD3B) is a protein-coding gene that encodes a transmembrane protein containing a conserved TLC domain. This protein functions as a ceramide synthase, contributing to cellular lipid composition, particularly ceramides, which are essential structural components of cellular membranes. TLCD3B is expressed in multiple tissues and is associated with inherited retinal dystrophies, such as cone-rod dystrophy. It has potential regulatory connections to PPAR-gamma signaling and metabolic disease, as suggested by studies in mice. The gene has several aliases, most commonly FAM57B and TLC3B. Key molecular features include its enzymatic activity and its membership in the TLC domain family, which also includes ceramide synthases and proteins involved in membrane lipid regulation[2][7][1].
No direct mechanism of action for drugs targeting TLCD3B is reported; possible indirect modulation via PPAR-gamma pathway[3][5].
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