KEGG   Homo sapiens (human): 80207Help
Entry
80207             CDS       T01001                                 

Gene name
OPA3, MGA3
Definition
(RefSeq) optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
Organism
hsa  Homo sapiens (human)
Disease
H00754  
3-Methylglutaconic aciduria (MGCA)
H01020  
Optic atrophy (OPA)
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-ProteinID: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
19q13.32
AA seq 179 aa AA seqDB search
MVVGAFPMAKLLYLGIRQVSKPLANRIKEAARRSEFFKTYICLPPAQLYHWVEMRTKMRI
MGFRGTVIKPLNEEAAAELGAELLGEATIFIVGGGCLVLEYWRHQAQQRHKEEEQRAAWN
ALRDEVGHLALALEALQAQVQAAPPQGALEELRTELQEVRAQLCNPGRSASHAVPASKK
NT seq 540 nt NT seq  +upstreamnt  +downstreamnt
atggtggtgggcgcgttccctatggcgaagctgctatacttgggcatccggcaggtcagc
aagccgcttgccaaccgtattaaggaggccgcccgccgaagcgagttcttcaagacctat
atctgcctcccgccggctcaactgtatcactgggtggagatgcggaccaagatgcgcatc
atgggcttccggggcacggtcatcaagccgctgaacgaggaggcggcagctgagctgggc
gcagagctgctgggcgaagccaccatcttcatcgtgggcggcggctgcctagtgctggag
tactggcgccaccaggcgcagcagcgccacaaggaggaggagcagcgtgctgcctggaac
gcgctgcgggacgaggtgggccacctggcgctggcgctggaagcgctgcaggcgcaggtg
caggcggcgccgccacagggcgccctggaggaactgcgcacagagctgcaagaggtgcgc
gcccagctctgcaatcccggccggtccgcttcccacgcagtgcctgcgtccaagaaatag

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