Description

optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) [Source:HGNC Symbol;Acc:HGNC:8142]

Synonyms

FLJ22187, MGA3

Location

Chromosome 19: 45,527,427-45,602,212 reverse strand.

GRCh38:CM000681.2

About this gene

This gene has 3 transcripts (splice variants), 49 orthologues, is a member of 1 Ensembl protein family and is associated with 4 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
OPA3-002ENST000002632757828179aaENSP00000263275
 
Protein coding
CCDS12668Q9H6K4 NM_025136
NP_079412
TSL:1GENCODE basicAPPRIS P3
OPA3-001ENST000003230602250180aaENSP00000319817
 
Protein coding
CCDS33052Q9H6K4 NM_001017989
NP_001017989
TSL:1GENCODE basicAPPRIS ALT2
OPA3-003ENST000005443711146126aaENSP00000442839
 
Protein coding
-B4DK77 -TSL:2GENCODE basic

Gene-based displays