NDUFA1 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB

General information
Gene symbol	NDUFA1
Gene name	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
Chromosome	X
Chromosomal band	q24
Imprinted	Unknown
Genomic reference	NC_000023.10
Transcript reference	NM_004541.3
Associated with diseases	252010, 301020
Citation reference(s)	-
Curators (0)	-
Total number of public variants reported	6
Unique public DNA variants reported	3
Individuals with public variants	0
Hidden variants	0
Download all this gene's data	Download all data
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	7683
Entrez Gene	4694
PubMed articles	NDUFA1
OMIM - Gene	300078
OMIM - Diseases	252010 (Mitochondrial complex I deficiency, 252010 (3)) 301020 (MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12)
HGMD	NDUFA1
GeneCards	NDUFA1
GeneTests	NDUFA1

Active transcripts

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000182	X	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa	NM_004541.3	NP_004532.1	6

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

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium