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FLASH GENE

Symbol

MC3R

contributors: mct - updated : 15-05-2017

HGNC name	melanocortin 3 receptor
HGNC id	6931

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     increase adiposity, reduce lean mass and white adipose tissue inflammation, and increase sensitivity to salt-induced hypertension constitutional   deletion     resulted in features common to Cushing syndrome including increased adiposity, decreased lean mass, decreased immune function, and increased sensitivity to salt-induced hypertension

Susceptibility

to severe obesity to tuberculosis

Variant & Polymorphism SNP , other	mutation I183N completely abolishes agonist-mediated receptor activationand is associated to severe obesity
	A293T, I335S and X361Sassociated to morbid obesity
	SNP rs6127698 in the promoter region of MC3R showed significant association with tuberculosis susceptibility
	C allele of rs11575886 could be a risk allele for the pulmonary TB by affecting the binding of transcription binding factor (TF)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Mc3r(-/-) mouse exhibits mild obesity without hyperphagia or hypometabolism