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FLASH GENE

Symbol

ISL1

contributors: shn/npt - updated : 31-05-2017

HGNC name	ISL LIM homeobox 1
HGNC id	6132

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to obesity to non insulin dependent diabetes mellitus, familial to non-syndromic congenital heart disease

Variant & Polymorphism SNP , other	SNP47A>G increases the body weight in diabetic morbidly obese
	genetic variation in ISL1 is associated with risk of non-syndromic congenital heart disease.

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Mice with a homozygous null mutation in the Isl1 gene exhibited growth retardation and heart abnormalities (Cai et al, 2003)

Mouse conditional knockout for Isl1 gene showed a loss of the nociceptive markers TrkA, TrkB and Runx1 and a near absence of cutaneous innervation, an excess of cell apoptosis, a ganglion size markedly diminished, a profound loss of cutaneous innervation. Mouse Isl1 CKO exhibits rofound deficits in the sensory innervation of the CNS and periphery, extensive changes in sensory gene expression, and markedly increased sensory apoptosis, with relative sparing of proprioceptor neuron (Sun et al, 2008)