View APTX gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol APTX
Gene name aprataxin
Chromosome 9
Chromosomal band p13.3
Imprinted Unknown
Genomic reference NC_000009.11
Transcript reference NM_001195248.1, NM_001195249.1, NM_001195250.1, NM_001195251.1, NM_001195252.1, NM_001195254.1, NM_175069.2, NM_175073.2, NR_036576.1, NR_036577.1, NR_036578.1, NR_036579.1
Associated with diseases -
Citation reference(s) -
Curators (0) -
Total number of public variants reported 0
Unique public DNA variants reported 0
Individuals with public variants 0
Hidden variants 0
Notes MSeqDR-LSDB
Date created November 07, 2013

Links to other resources
HGNC 15984
Entrez Gene 54840
PubMed articles APTX
OMIM - Gene 606350
HGMD APTX
GeneCards APTX
GeneTests APTX


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000033 9 transcript variant 8 NM_001195250.1 NP_001182179.1 0
00000034 9 transcript variant 12 NR_036576.1 - 0
00000035 9 transcript variant 13 NR_036577.1 - 0
00000036 9 transcript variant 11 NM_001195252.1 NP_001182181.1 0
00000037 9 transcript variant 6 NM_001195248.1 NP_001182177.1 0
00000038 9 transcript variant 2 NM_175069.2 NP_778239.1 0
00000039 9 transcript variant 1 NM_175073.2 NP_778243.1 0
00000040 9 transcript variant 9 NM_001195251.1 NP_001182180.1 0
00000041 9 transcript variant 10 NM_001195254.1 NP_001182183.1 0
00000042 9 transcript variant 14 NR_036578.1 - 0
00000043 9 transcript variant 15 NR_036579.1 - 0
00000044 9 transcript variant 7 NM_001195249.1 NP_001182178.1 0


Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium