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- Table of Contents
Facts about Optic atrophy 3 protein.
Human | |
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Gene Name: | OPA3 |
Uniprot: | Q9H6K4 |
Entrez: | 80207 |
Belongs to: |
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OPA3 family |
FLJ22187; FLJ25932; MGA3Optic atrophy 3 (Iraqi-Jewish 'optic atrophy plus'); MGC75494; optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia); optic atrophy 3 protein
Mass (kDA):
19.996 kDA
Human | |
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Location: | 19q13.32 |
Sequence: | 19; NC_000019.10 (45527427..45584802, complement) |
Ubiquitous. Most prominent expression in skeletal muscle and kidney.
Mitochondrion.
PMID: 11668429 by Anikster Y., et al. 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.
PMID: 15342707 by Reynier P., et al. OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.