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FLASH GENE

Symbol

VCL

contributors: mct/npt/shn - updated : 29-06-2016

HGNC name	vinculin
HGNC id	12665

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CMD1W

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   associated with human cardiomyopathy (Palmer 2009)

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	potential plasma biomarker for age-related macular degeneration
Therapy target

ANIMAL & CELL MODELS

vinculin null embryos were small, abnormal, lack of midline fusion of the rostral neural tube, producing a cranial bilobular appearance and attenuation of cranial and spinal nerve development and have heart development defects