The MTRR gene homepage

General information
Gene symbol MTRR
Gene name 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
Chromosome 5
Chromosomal band p15.31
Imprinted Unknown
Genomic reference NG_008856.1
Transcript reference NM_002454.2, NM_024010.2
Associated with diseases HMAE, ID, NTDFS
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 233
Unique public DNA variants reported 28
Individuals with public variants 35
Hidden variants 76
Date created November 30, -0001
Date last updated September 28, 2016
Version MTRR:160928

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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:7473
Entrez Gene 4552
PubMed articles MTRR
OMIM - Gene 602568
OMIM - Diseases HMAE (anemia, homocystinuria-megaloblastic, cblE complementation type (HMAE))
NTDFS (neural tube defects, folate-sensitive (NTDFS))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00012893 5 transcript variant 1 NM_002454.2 NP_002445.2 233
00012894 5 transcript variant 2 NM_024010.2 NP_076915.2 231