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FLASH GENE

Symbol

SIM1

contributors: mct - updated : 10-10-2018

HGNC name	single-minded homolog 1 (Drosophila)
HGNC id	10882

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

DEL6QP

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function postnatal CNS deficiency of SIM1 is sufficient to cause hyperphagic obesity (Tolson 2010) constitutional       loss of function causes early-onset obesity constitutional germinal mutation     loss of function in overweight children with developmental delay

Susceptibility

to erectile dysfunction to obesity associated with lower preference for high sugar and low fat

Variant & Polymorphism SNP	rs17185536-T significantly associated with the risk of erectile dysfunction
	SIM1 variant, p.D134N, associated to obesity associated with lower preference for high sugar and low fat

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	murine S-/- die perinatally, Sim+/- development early-onset obesity, with hyperphagy but not decrease of energy expenditure
	Sim1-overexpressing transgenic mice exhibit decreased bone formation and low bone mass
	paraventricular nucleus (PVN)-Sim1 neuron ablated mice have a decreased response to fasting-induced hyperphagia