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FLASH GENE

Symbol

ADAMTS18

contributors: mct/npt/pgu - updated : 06-03-2017

HGNC name	ADAM metallopeptidase with thrombospondin type 1 motif, 18
HGNC id	17110

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

MMCAT

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   frequently silenced by hypermethylation in esophageal, nasopharyngeal and multiple other carcinomas tumoral somatic mutation       promote growth, migration, and metastasis in melanoma tumoral     --low   by hypermethylation, in clear cell renal cell carcinoma

Susceptibility

to variation of hip BMD

Variant & Polymorphism SNP	the C allele of rs11864477 significantly associated to lower hip BMD

Candidate gene
Marker	ADAMTS18 gene hypermethylation may be involved in the tumorigenesis of clear cell renal cell carcinoma and may serve as a novel biomarker for this disease
Therapy target

ANIMAL & CELL MODELS

Adamts18-deficient mice are born in a normal Mendelian ratio, and are viable but show a transient growth delay