Family

Optic atrophy 3-like (IPR010754)

Short name: OPA3-like

Family relationships

None.

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 [PMID: 12126933].

This family consists of several optic atrophy 3 (OPA3) proteins and related proteins from other eukaryotic species, the function is unknown.

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
Pfam
PANTHER