MRPL44 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol MRPL44
Gene name mitochondrial ribosomal protein L44
Chromosome 2
Chromosomal band p24.3-p24.1
Imprinted Unknown
Genomic reference NC_000002.11
Transcript reference NM_022915.3
Associated with diseases COXPD16
Citation reference(s) -
Curators (0) -
Total number of public variants reported 3
Unique public DNA variants reported 2
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 16650
Entrez Gene 65080
PubMed articles MRPL44
OMIM - Gene 611849
OMIM - Diseases COXPD16 (Combined oxidative phosphorylation deficiency 16, 615395 (3))
HGMD MRPL44
GeneCards MRPL44
GeneTests MRPL44


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000174 2 mitochondrial ribosomal protein L44 NM_022915.3 NP_075066.1 3


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

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium