Target intelligence / Profile preview

TLC domain containing 3B (TLCD3B)

Target
TLCD3B
Molecular classification
Transmembrane protein, Enzyme (ceramide synthase), TLC (Tram-Lag-CLN8) domain-containing protein
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Overview

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].

Other names
FAM57BTLC3BFamily with sequence similarity 57 member BFP1188
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Mechanism of action

No direct mechanism of action for drugs targeting TLCD3B is reported; possible indirect modulation via PPAR-gamma pathway[3][5].

03

Biological functions

Ceramide synthesisRegulation of lipid compositionPotential involvement in peroxisome proliferator-activated receptor gamma (PPAR-gamma) signaling[2][3][5]
04

Disease associations

Cone-rod dystrophy 22 (and 2) (genetic retinal disorder)[2][7]16p11.2 proximal deletion syndrome (genetic association)[2]Potential relevance to obesity (mouse ortholog)[2]

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