Genes implicated in single-gene forms of obesity

Gene Role of gene product Symptoms associated with obesity No. of cases (No. of families)
LEP (leptin)Defect in signal from adipose tissue to brainHypogonadotrophic hypogonadism5 (2)
LEPR (leptin receptor)Defect in signal from adipose tissue to brainHypogonadotrophic hypogonadism3 (1)
PCSK1 (protein convertase subtilisin/kexin type 1)Defective maturation of POMCHyperproinsulinemia
Hypocortisolism
Hypogonadotrophic hypogonadism
1 (1)
POMC (pro-opiomelanocortin)Absence of ACTH, α-MSH, and ß-endorphin precursorsCorticotropic insufficiency2 (2)
MC4R (melanocortin 4 receptor)Defective binding of MC4R ligands (α-MSH)None>14 (>10)

From: Childhood obesity: Screening and prevention

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