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FLASH GENE

Symbol

LTBP4

contributors: mct/npt - updated : 31-03-2015

HGNC name	latent transforming growth factor beta binding protein 4
HGNC id	6717

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CPVS , ARCL1C

Susceptibility

to Abdominal Aortic Aneurysm to variation of age of ambulatory loss in Duchenne muscular dystrophy

Variant & Polymorphism SNP	significant association with the LTBP4 21011A>T genotype in Abdominal Aortic Aneurysm (Thompson 2009)
	in Duchenne muscular dystrophy, individuals homozygous for the IAAM LTBP4 haplotype remained ambulatory significantly longer than those heterozygous or homozygous for the VTTT haplotype

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed dermatology skin   potential therapeutic target for elastic fiber regeneration

ANIMAL & CELL MODELS

mice deficient in Ltbp4 display a defect in lung septation and elastogenesis