Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 16-11-2021

Symbol	STGD3
Location	6q14
HGNC id	11383
Name	Stargardt disease 3
Other name(s)	macular dystrophy with flecks, type 3
Corresponding gene	ELOVL4
related resource	Retinal Information Network
Other symbol(s)	STGT3, ADMD
Main clinical features	early onset by photophobia characterized by decreased central vision, atrophy of the macula and underlying retinal-pigment epithelium and frequent yellow "flavimaculatus flecks" in the posterior pole of the retina (includes rhe formely STGD2)
Genetic determination	autosomal dominant
Function/system disorder	eye
Type	disease

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
unknown			mutant not localizing to the ER but rather appears to be sequestered elsewhere in an aggregated pattern in the cytoplasm

Remark(s)

C-terminal truncation mutants exert a dominant negative effect on wild type , altering its subcellular localization inactivation of the wild-type ELOVL4 protein through sequestration to a non-ER compartment by ELOVL4 mutants may play a role in cellular dysfunction mutant ELOVL4 interacts with the wild-type protein, forming higher molecular mass complexes that accumulate in aggresomes