2. Gene
  3. MRPL44 - mitochondrial ribosomal protein L44 Gene

MRPL44 - mitochondrial ribosomal protein L44 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as L44MT; COXPD16; MRP-L44

Gene ID: 65080 | Gene type: protein coding

About MRPL44

Cytogenetic location: 2q36.1 Genomic coordinates (GRCh38): 2:223,950,854-223,967,714 (from NCBI)

This gene has 1 transcript (splice variant), 207 orthologues and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 7.0), lymph node (RPKM 6.9) and 25 other tissues.

Summary

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]

MRPL44 Products(1)

mRNA Protein Name
NM_022915.5 NP_075066.1 39S ribosomal protein L44, mitochondrial
Protein Preferred Names Protein Names

39S ribosomal protein L44, mitochondrial

mitochondrial large ribosomal subunit protein mL44

Recombinant MRPL44 Proteins

Cat. No. Product Name Accession Purity
HY-P77090 MRPL44 Protein, Human (sf9, His) Q9H9J2 (M1-S332) ≥95%

Related Diseases

Diseases Alias
Combined Oxidative Phosphorylation Deficiency 16

COXPD16

Infantile Hypertrophic Cardiomyopathy Due To Mrpl44 Deficiency

Combined Oxidative Phosphorylation Defect Type 16

Combined Oxidative Phosphorylation Deficiency, Type 16
Combined Oxidative Phosphorylation Deficiency 1

Hepatoencephalopathy Due To Combined Oxidative Phosphorylation Defect Type 1

COXPD1

Early Fatal Progressive Hepatoencephalopathy

Hepatoencephalopathy Due To Coxpd1

Combined Oxidative Phosphorylation Deficiency, Type 1

Hepatoencephalopathy, Early Fatal Progressive

Hepatoencephalopathy Early Fatal Progressive
Dyskinetic Cerebral Palsy

Athetoid Cerebral Palsy

Athetoid Dyskinetic Cerebral Palsy

Cerebral Palsy Athetoid

Cerebral Palsy Dyskinetic

Athetoid Cerebral Paralysis

Dyskinetic Cerebral Paralysis

Vogt Disease

Athetoid Cerebrum Palsy

Double Athetosis Syndrome

État Marbré
Combined Oxidative Phosphorylation Deficiency
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy

Peripheral Neuropathy And Optic Atrophy

Cmt6

Charcot-Marie-Tooth Disease Type 6

Hmsn Vi

HMSN6A

Hmsn Via

Hmsn6

Cmt6a

Charcot-Marie-Tooth Disease, Type 6

Hereditary Motor And Sensory Neuropathy Type 6

Hereditary Motor And Sensory Neuropathy Type Vi

Neuropathy, Hereditary Motor And Sensory, Type 6a

Neuropathy, Hereditary Motor And Sensory, Type Vi

Charcot-Marie-Tooth Disease, Type 6a

Hereditary Motor And Sensory Neuropathy Via

Hmsn 6

Neuropathy, Hereditary Motor And Sensory, 6a, With Optic Atrophy

Charcot-Marie-Tooth Disease 6

Charcot-Marie-Tooth Disease 6a

Hereditary Motor And Sensory Neuropathy Type Via

Hereditary Motor And Sensory Neuropathy Vi
Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis
Myoclonic Epilepsy Associated With Ragged-Red Fibers

Merrf Syndrome

MERRF

Fukuhara Syndrome

Myoclonic Epilepsy Associated With Ragged Red Fibers

Myoencephalopathy Ragged-Red Fiber Disease

Myoclonic Epilepsy - Ragged Red Fibers

Myoclonus Epilepsy And Ragged Red Fibers

Myoclonus With Epilepsy And With Ragged Red Fibers

Myoclonic Epilepsy With Ragged Red Fibers

Myoclonic Epilepsy With Ragged-Red Fibers

Fukuhara Disease

Myoclonus Epilepsy Associated With Ragged-Red Fibres

Myoclonus With Epilepsy With Ragged Red Fibers
Perrault Syndrome

Gonadal Dysgenesis, Xx Type, With Deafness

Ovarian Dysgenesis With Sensorineural Deafness

Gonadal Dysgenesis, Xx Type

Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance

Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance

Xx Gonodal Dysgenesis-Deafness Syndrome

Xx Gonodal Dysgenesis-Hearing Loss Syndrome

Gonadal Dysgenesis Xx Type Deafness
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS08673 MRPL44 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta MRPL44 VGNC VGNC:74779
Rattus norvegicus MRPL44 RGD RGD:1309556
Bos taurus MRPL44 VGNC VGNC:31639
Felis catus MRPL44 VGNC VGNC:63606
Mus musculus MRPL44 MGD MGI:1916413
Canis familiaris MRPL44 VGNC VGNC:43399
Others MRPL44 NCBI