Description
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) [Source:HGNC Symbol;Acc:8142]
Gene Synonyms
FLJ22187, MGA3
Location
Chromosome 19: 46,030,685-46,105,470 reverse strand.
GRCh37:CM000681.1
About this gene
This gene has 3 transcripts (splice variants) and is associated with 4 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000263275.4 | OPA3-002 | 7828 | 179aa | ENSP00000263275.3 | Protein coding | CCDS12668 | B4DK77 Q9H6K4 | NM_025136.3 | GENCODE basic, |
| ENST00000323060.3 | OPA3-001 | 2250 | 180aa | ENSP00000319817.3 | Protein coding | CCDS33052 | Q9H6K4 | NM_001017989.2 | GENCODE basic, |
| ENST00000544371.1 | OPA3-003 | 1146 | 126aa | ENSP00000442839.1 | Protein coding | B4DK77 | - | GENCODE basic, |
