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FLASH GENE

Symbol

ACAN

contributors: mct/npt - updated : 16-12-2019

HGNC name	aggrecan
HGNC id	319

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

SEDMA , FOD , SEMDAG

Susceptibility

to multiple disc degeneration in the subjects below the age of 40 years to non-syndromic short stature

Variant & Polymorphism repeat	carrying a copy of the allele with 21 repeats might increase the risk of multiple disc degeneration in the subjects below the age of 40 years
	truncating variants at the 5' end of ACAN gene co-segregate with severe short stature phenotype

Candidate gene
Marker	potential novel biomarker which might be used for prediction of lumbar degenerative disc disease (LDDD) risk
Therapy target

ANIMAL & CELL MODELS

Cmd (cartilage matrix deficiency) homologpus mice