The MRPL44 gene homepage

General information
Gene symbol MRPL44
Gene name mitochondrial ribosomal protein L44
Chromosome 2
Chromosomal band p24.3-p24.1
Imprinted Unknown
Genomic reference NG_050679.1
Transcript reference NM_022915.3
Exon/intron information NM_022915.3 exon/intron table
Associated with diseases COXPD-16
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 5
Unique public DNA variants reported 3
Individuals with public variants 5
Hidden variants 2
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 June 24, 2020
Version MRPL44:200624

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_022915.3.
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
HGNC 16650
Entrez Gene 65080
PubMed articles MRPL44
OMIM - Gene 611849
OMIM - Diseases COXPD-16 (combined oxidative phosphorylation deficiency, type 16 (COXPD-16))
GeneCards MRPL44

Active transcripts




NCBI ID     

NCBI Protein ID     

00013879 2 mitochondrial ribosomal protein L44 NM_022915.3 NP_075066.1 5

Copyright & disclaimer
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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.