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FLASH GENE

Symbol

IFT88

contributors: npt/mct - updated : 07-09-2017

HGNC name	intraflagellar transport 88 homolog (Chlamydomonas)
HGNC id	20606

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 tumoral     --low   in hepatocellular carcinoma constitutional       loss of function leads to misorientation of stereociliary bundles and to shortening and widening of the cochlea and its sensory organ constitutional     --over   prevents G1-S transition and induces apoptotic cell death (Robert 2007) constitutional       loss of function results in the absence of cilia and causes left-right asymmetry defects, disordered Hedgehog signaling, and polycystic kidney disease, all of which are explained by aberrant ciliary function constitutional       loss of function may play an important role in malignant transformation of fetal liver stem/progenitor cells (FLSPCs)

Susceptibility

Variant & Polymorphism

Candidate gene	recessive polycystic kidney disease and other recessive renal diseases
Marker
Therapy target

ANIMAL & CELL MODELS

	transgenic mice containing an insertional mutation in Tg373 (Moyer,94)
	C. elegans daf-19 mutant worms can thus serve as a molecular model for the mechanisms of functional neuronal decline seen in many human neurodegenerative disorders (Senti 2008)
	spermatids of the Ift88 mouse mutant display abnormal head shaping and are tail-less
	Ift88(-/-) mice are completely sterile