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	HGNC	UniGene	Nucleotide	OMIM	UCSC

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FLASH GENE

Symbol

SGPL1

contributors: mct - updated : 23-05-2017

HGNC name	sphingosine-1-phosphate lyase 1
HGNC id	10817

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

SRNIA , CMT2G

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in fibrotic lung tissues and primary lung fibroblasts isolated from patients with idiopathic pulmonary fibrosis (IPF) constitutional       loss of function produces a pro-inflammatory response while impairing neutrophil trafficking

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neurology neurodegenerative   autophagy modulators (as SGPL1) hold an enormous therapeutic potential in the treatment of neurodegenerative diseases

ANIMAL & CELL MODELS

	Sgpl1-/- mice recapitulated the main characteristics of the human disease with abnormal adrenal and renal morphology
	S1P lyase deficiency in mice causes a severe, lethal phenotype
	Sgpl1-deficient mice have low numbers of lymphocytes and high numbers of neutrophils in their blood