View BBOX1 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol BBOX1
Gene name butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1
Chromosome 11
Chromosomal band p
Imprinted Unknown
Genomic reference NC_000011.9
Transcript reference NM_003986.2, XM_005253159.1, XM_005253160.1, XM_005253161.1, XM_005253162.1, XM_005253163.1
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 15, 2013

Links to other resources
HGNC 964
Entrez Gene 8424
PubMed articles BBOX1
OMIM - Gene 603312
HGMD BBOX1
GeneCards BBOX1
GeneTests BBOX1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001582 11 transcript variant X1 XM_005253159.1 XP_005253216.1 0
00001583 11 transcript variant X2 XM_005253160.1 XP_005253217.1 0
00001584 11 transcript variant X4 XM_005253162.1 XP_005253219.1 0
00001585 11 butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 NM_003986.2 NP_003977.1 0
00001586 11 transcript variant X3 XM_005253161.1 XP_005253218.1 0
00001587 11 transcript variant X5 XM_005253163.1 XP_005253220.1 0


Copyright & disclaimer
; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium