|  Help  |  About  |  Contact Us

Protein Domain : Optic atrophy 3-like

Primary Identifier  IPR010754 Type  Family
Short Name  OPA3-like
description  OPA3 deficiency causes type III 3-methylglutaconic aciduria (MGA) in humans. This disease manifests with early bilateral optic atrophy, spasticity, extrapyramidal dysfunction, ataxia, and cognitive deficits, but normal longevity [].This family consists of several optic atrophy 3 (OPA3) proteins and related proteins from other eukaryotic species, the function is unknown.

0 Child Features

0 Parent Features

4 Protein Domain Regions