SURF1 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol SURF1
Gene name surfeit 1
Chromosome 9
Chromosomal band q33-q34
Imprinted Unknown
Genomic reference NC_000009.11
Transcript reference NM_001280787.1, NM_003172.3
Associated with diseases 220110, LS
Citation reference(s) -
Curators (0) -
Total number of public variants reported 45
Unique public DNA variants reported 42
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
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 11474
Entrez Gene 6834
PubMed articles SURF1
OMIM - Gene 185620
OMIM - Diseases 220110 (Mitochondrial complex IV deficiency, 220110 (3))
LS (Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3))
GeneCards SURF1
GeneTests SURF1

Active transcripts




NCBI ID     

NCBI Protein ID     

00000317 9 transcript variant 2 NM_001280787.1 NP_001267716.1 45
00000318 9 transcript variant 1 NM_003172.3 NP_003163.1 45

Copyright & disclaimer
Sources: GeneDX ; NuclearMitome ; MitoPhenome ; MitoCarta

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium