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FLASH GENE

Symbol

KITLG

contributors: mct/npt - updated : 07-01-2014

HGNC name	KIT ligand
HGNC id	6343

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

FPH2 , HPDD1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   of KIT and KITLG expression in primary Merkel cell carcinoma and in metastases suggests an early event in Merkel cell transformation (Krasagakis 2009)

Susceptibility

to infertility in males to testicular germ cell tumors (TGCT)

Variant & Polymorphism SNP , other	associated to hair color
	rs10506957 polymorphism within the KITLG gene only in the infertile males (Galan 2006)
	rs3782179 and rs4474514 increasing the risk of testicular germ cell tumors (TGCT) (Kanetsky 2009)

Candidate gene	for hyperkeratosis pilaris/ulerythema ophryogenes seen in del 12q21.1-q22
Marker
Therapy target

ANIMAL & CELL MODELS

	many mutant alleles of Kitlg are lethal in homozygous mice and produce a variable level of coat-color dilution in heterozygous mice (Wang 2009)
	in Scf(gfp) knock-in mice, Scf was primarily expressed by perivascular cells throughout the bone marrow