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FLASH GENE

Symbol

LAMA1

contributors: mct/npt - updated : 23-06-2010

HGNC name	laminin, alpha 1
HGNC id	6481

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

PTBHS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       disrupt retinal vascular development and inner limiting membrane formation (Edwards 2010)

Susceptibility

to high myopia (Sasaki 2007)

Variant & Polymorphism

Candidate gene	candidate genes for human retinal diseases (Edwards 2010)
Marker
Therapy target

ANIMAL & CELL MODELS

mouse model of retinal vasculopathy, nmf223, characterized clinically by vitreal fibroplasia and vessel tortuosity and reduced electroretinogram responses, and having a missense mutation identified in Lama1 (Edwards 2010)