Table 1.

Genes that function in the brain and regulate whole-body metabolism.

Physiological aspect involvements	Gene name	Mainly locations in the hypothalamus	Symptoms in human mutation	Phenotypes in mice mutation
Leptin-melanocortin pathway	LEPR	ARC, PVH, VMH and LHA	Early-onset obesity	Early-onset obesity
	POMC	ARC	Obesity and hyperphagia	Obesity and hyperphagia
	NCOA1	Widely expressed	Obesity	Hyperphagia, increased fat mass and diet-induced obesity
	MC4R	PVH	Obesity	Obesity, hyperphagia and hyperglucemia
	SIM1	PVH	Obesity	Obesity and hyperphagia
	ARNT2	Widely expressed	Associated with BMI	Hyperphagia, abnormal glucose metabolism and excessive lipid storage
	BDNF	PVH and VMH	Associated with BMI	Disrupted body weight and food intake
	NTRK2	ARC, VMH and DMH	Obesity	Obesity and hyperphagia
Primary cilia related	CEP19	Widely expressed	Obesity	Obesity and hyperphagia
	ADCY3	ARC, PVH and VMH	Associated with BMI	Disrupted body weight
Other genes	FTO	Widely expressed	Associated with BMI and more food intake	Reduced body fat mass (knockout)
	MYT1L	Widely expressed	Obesity	/
	SH2B1	Widely expressed	Obesity	Obesity and leptin resistance

ADCY3, adenylate cyclase 3; ARC, arcuate nucleus of hypothalamus; ARNT2, Aryl hydrocarbon receptor nuclear translocator 2; BDNF, brain-derived neurotropic factor; BMI, body mass index; CEP19, centrosomal protein 19; DMH, dorsomedial hypothalamus; FTO, FTO alpha-ketoglutarate dependent dioxygenase in Homo sapiens and fat mass and obesity associated in Mus musculus; LEPR, leptin receptor; LHA, lateral hypothalamic area; MC4R, melanocortin 4 receptor; MYT1L, myelin transcription factor 1 like; NCOA1, nuclear receptor coactivator 1; NTRK2, neurotrophic receptor tyrosine kinase 2; POMC, pro-opiomelanocortin; PVH, paraventricular nucleus of the hypothalamus; SH2B1, SH2B adaptor protein 1; SIM1, single-minded 1; VMH, ventromedial hypothalamus