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FLASH GENE

Symbol

PFN1

contributors: mct/pgu - updated : 19-06-2013

HGNC name	profilin 1
HGNC id	8881

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

ALS18

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   sensitizes cancer cells to apoptosis through the typical intrinsic apoptotic pathway constitutional     --over   reduces the aggregation of polyglutamine-expanded HTT and androgen receptor (AR) peptides

Susceptibility

to Amyotrophic lateral sclerosis (ALS18)

Variant & Polymorphism

Candidate gene
Marker	has the potential to serve as a diagnostic or progression biomarker in renal cell carcinoma
Therapy target
	System Type Disorder Pubmed cancer urinary   therapeutic target in renal cell carcinoma

ANIMAL & CELL MODELS

	homozygous Col2pfn1 mice develop progressive chondrodysplasia caused by disorganization of the growth plate and defective chondrocyte cytokinesis, indicated by the appearance of binucleated cells
	Pfn1-deficient mice exhibited an absence of trabecular bone in the marrow space of appendicular long bone 1)