View AUH gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol AUH
Gene name AU RNA binding protein/enoyl-CoA hydratase
Chromosome 9
Chromosomal band q22
Imprinted Unknown
Genomic reference NC_000009.11
Transcript reference NM_001698.2, XM_005252066.1, XM_005252067.1, XM_005252068.1, XM_005252069.1, XM_005252070.1, XM_005252071.1, XM_005252072.1, XM_005252073.1
Associated with diseases MGCA1
Citation reference(s) -
Curators (0) -
Total number of public variants reported 4
Unique public DNA variants reported 4
Individuals with public variants 0
Hidden variants 0
Notes MSeqDR-LSDB
Date created November 07, 2013

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 890
Entrez Gene 549
PubMed articles AUH
OMIM - Gene 600529
OMIM - Diseases MGCA1 (3-METHYLGLUTACONIC ACIDURIA, TYPE I)
HGMD AUH
GeneCards AUH
GeneTests AUH


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000046 9 AU RNA binding protein/enoyl-CoA hydratase NM_001698.2 NP_001689.1 4
00000047 9 transcript variant X3 XM_005252068.1 XP_005252125.1 4
00000048 9 transcript variant X6 XM_005252071.1 XP_005252128.1 4
00000049 9 transcript variant X5 XM_005252070.1 XP_005252127.1 4
00000050 9 transcript variant X2 XM_005252067.1 XP_005252124.1 4
00000051 9 transcript variant X1 XM_005252066.1 XP_005252123.1 4
00000052 9 transcript variant X8 XM_005252073.1 XP_005252130.1 4
00000053 9 transcript variant X4 XM_005252069.1 XP_005252126.1 4
00000054 9 transcript variant X7 XM_005252072.1 XP_005252129.1 3


Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium