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FLASH GENE

Symbol

APPL1

contributors: mct/pgu - updated : 17-05-2017

HGNC name	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1
HGNC id	24035

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

MODY14

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   caused developmental delay and with high penetrance a number of dysmorphic phenotypes, such as severely swollen yolk extension, slightly swollen telencephalon, blown-up blood island and, later in development, sharp kinks in body axes constitutional germinal mutation     loss of function in familial diabetes mellitus tumoral     --over   in aggressive prostate cancer tissues

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	APPL, APPL2-TGFBR1 complex may serve as a prognostic marker, in prostate cancer
Therapy target
	System Type Disorder Pubmed cancer     good candidate to target for the treatment of cancers caused by dysregulation of EGF signaling cancer     regulatory function of APPL1 on Akt signaling and its mediated substrate specificity discovered here may therefore render APPL1 a particularly interesting target for cancer therapy diabete     potential target for future treatments aimed at preserving or restoring glucose homeostasis diabete type 1   promising target for treating type 1 diabetes diabete     may be a new therapy target for diabetic nephropathy

ANIMAL & CELL MODELS

	Appl1 Tg mice exhibit improved peripheral metabolism, reduced cardiac lipotoxicity, and improved insulin sensitivity
	Appl1 knockout mice exhibit glucose intolerance and impaired glucose-stimulated insulin secretion (GSIS)