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FLASH GENE

Symbol

SEMA4A

contributors: mct/npt - updated : 17-01-2015

HGNC name	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
HGNC id	10729

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CORD10 , RP35

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   amplification     microduplication associated to behavioural and emotional disturbances including general anxiety disorder, mood disorders, and intellectual disability

Susceptibility

to light exposure, oxidative stress, and ER stress, which may be involved in the progression and pathology of RP

Variant & Polymorphism other	mutations in SEMA4A may cause susceptibility to light exposure, oxidative stress, and ER stress, which may be involved in the progression and pathology of RP

Candidate gene
Marker
Therapy target	potential therapeutic target for autoimmune myocarditis

ANIMAL & CELL MODELS

Sema4A-deficient mice exhibit marked photoreceptor degeneration