The CYP2U1 gene homepage

General information
Gene symbol CYP2U1
Gene name cytochrome P450, family 2, subfamily U, polypeptide 1
Chromosome 4
Chromosomal band q25
Imprinted Unknown
Genomic reference NG_007961.1
Transcript reference NM_183075.2
Exon/intron information NM_183075.2 exon/intron table
Associated with diseases SPG56
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 25
Unique public DNA variants reported 19
Individuals with public variants 7
Hidden variants 6
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated August 10, 2022
Version CYP2U1:220810

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_183075.2.
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
Homepage URL https://www.LOVD.nl/CYP2U1
HGNC 20582
Entrez Gene 113612
PubMed articles CYP2U1
OMIM - Gene 610670
OMIM - Diseases SPG56 (paraplegia, spastic, type 56, autosomal recessive (SPG-56))
HGMD CYP2U1
GeneCards CYP2U1
GeneTests CYP2U1
Orphanet CYP2U1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00006011 4 cytochrome P450, family 2, subfamily U, polypeptide 1 NM_183075.2 NP_898898.1 25


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