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STRA6 P293L [plasma membrane]
Stable Identifier
R-HSA-2453841
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
Stimulated by retinoic acid gene 6 protein homolog, STRA6_HUMAN, STRA6 Pro293Leu
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Locations in the PathwayBrowser
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Disease (Homo sapiens)
Diseases of the neuronal system (Homo sapiens)
Diseases associated with visual transduction (Homo sapiens)
Retinoid cycle disease events (Homo sapiens)
Defective visual phototransduction due to STRA6 loss of function (Homo sapiens)
Defective STRA6 does not transport atROL (Homo sapiens)
TTR:RBP4:atROL:STRA6 mutants [plasma membrane] (Homo sapiens)
STRA6 mutants [plasma membrane] (Homo sapiens)
STRA6 P293L [plasma membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q9BX79 STRA6
Gene Names
STRA6, PP14296, UNQ3126/PRO10282/PRO19578
Chain
chain:1-667
Reference Genes
COSMIC (genes):STRA6 STRA6
dbSNP Gene:64220 STRA6
ENSEMBL:ENSG00000137868 STRA6
Participates
as a member of
STRA6 mutants [plasma membrane] (Homo sapiens)
Other forms of this molecule
STRA6 W23* [plasma membrane]
STRA6 T321P [plasma membrane]
STRA6 P90L [plasma membrane]
STRA6 T644M [plasma membrane]
STRA6 R655C [plasma membrane]
STRA6 [plasma membrane]
Modified Residues
Name
L-proline 293 replaced with L-leucine
Coordinate
293
PsiMod
L-leucine residue [MOD:00020]
A protein modification that effectively converts a source amino acid residue to an L-leucine.
L-proline removal [MOD:01645]
A protein modification that effectively removes or replaces an L-proline.
Disease
Name
Identifier
Synonyms
microphthalmia
DOID:10629
simple microphthalmos, nanophthalmia, microphthalmos, nanophthalmos
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