Optic Atrophy 3 (OPA3)

MGA3; Recessive,With Chorea And Spastic Paraplegia; 3-Methylglutaconic Aciduria Type 3

SPN	U152
HGNC	8142
MGI	2686271
PubMed	18222992
RGD	1309147
UniProt	Q9H6K4
Wiki	OPA3

The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene.

OPA3 cDNA encodes a deduced 179-amino acid protein. Northern blot analysis demonstrated a primary transcript of approximately 5.0 kb that was ubiquitously expressed, most prominently in skeletal muscle and kidney. Compared to other parts of the brain, the cerebral cortex, the medulla, the cerebellum, and the frontal lobe had slightly increased expression.

Reference

"Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews."
Am. J. Hum. Genet. 69:1218-1224(2001) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract."
J. Med. Genet. 41:E110-E110(2004) [PubMed] [Europe PMC] [Abstract]