TLCD3B Chromosome 16

TLC domain containing 3B

2 variants 2 Health Risk

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What This Gene Does

This gene encodes a transmembrane protein, which may be a likely target of peroxisome proliferator-activated receptor gamma (PPAR-gamma). The product of the orthologous gene in mouse is related to obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Gene Info

Gene Group

TLC domain containing

Locus Type

gene with protein product

Location

16p11.2

Ensembl

ENSG00000149926

Associated Conditions (1)

Cone-rod dystrophy 22

Key Variants

RS2150976700

Pathogenic

Cone-rod dystrophy 22, Cone-rod dystrophy 22

Health Risk

RS745587834

Pathogenic

Cone-rod dystrophy 22, Cone-rod dystrophy 22

Health Risk

All Variants (2)

RSID	Category	Clinical Significance	Conditions
RS2150976700	Health Risk	Pathogenic	Cone-rod dystrophy 22, Cone-rod dystrophy 22
RS745587834	Health Risk	Pathogenic	Cone-rod dystrophy 22, Cone-rod dystrophy 22