MRPS22 - mitochondrial ribosomal protein S22 Gene

Homo sapiens

Also known as GIBT; ODG7; GK002; C3orf5; COXPD5; RPMS22; MRP-S22

Gene ID: 56945 | Gene type: protein coding

About MRPS22

Cytogenetic location: 3q23 Genomic coordinates (GRCh38): 3:139,343,994-139,357,140 (from NCBI)

This gene has 25 transcripts (splice variants), 215 orthologues and is associated with 5 phenotypes. Ubiquitous expression in adrenal (RPKM 27.8), testis (RPKM 18.6) 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 28S subunit protein that does not seem to have a counterpart in prokaryotic and fungal-mitochondrial ribosomes. This gene lies telomeric of and is transcribed in the opposite direction from the forkhead box L2 gene. A pseudogene corresponding to this gene is found on chromosome Xq. [provided by RefSeq, Jul 2008]

MRPS22 Products(3)

mRNA	Protein	Name
NM_001363857.1	NP_001350786.1	28S ribosomal protein S22, mitochondrial isoform 2
NM_001363893.1	NP_001350822.1	28S ribosomal protein S22, mitochondrial isoform 3
NM_020191.4	NP_064576.1	28S ribosomal protein S22, mitochondrial isoform 1

MRPS22 Protein Structure

MRP-S22

0
100
200
300
360 a.a.

Protein Preferred Names

Protein Names

28S ribosomal protein S22, mitochondrial

S22mt

Related Diseases

Diseases

Alias

Combined Oxidative Phosphorylation Deficiency 5

COXPD5	Hypotonia With Lactic Acidemia And Hyperammonemia
Combined Oxidative Phosphorylation Defect Type 5	Combined Oxidative Phosphorylation Deficiency, Type 5

Ovarian Dysgenesis 7

ODG7

46,Xx Sex Reversal 1

46,Xx Testicular Disorder Of Sex Development	46,Xx Gonadal Dysgenesis
SRXX1	46,Xx Gonadal Dysgenesis, Complete, Sry-Positive
46,Xx Testicular Dsd	Xx Male Syndrome
46,Xx Complete Gonadal Dysgenesis	46,Xx Pure Gonadal Dysgenesis
Follicular Stimulating Hormone-Resistant Ovaries	Hypergonadotropic Ovarian Dysgenesis
Ovotesticular Disorder Of Sex Development	46,Xx Sex Reversal, Sry-Positive
Xx Male, Sry-Positive	46xx Sex Reversal 1
46, Xx Gonadal Sex Reversal	Xx Sex Reversal
46,Xx Ovarian Dysgenesis	Fsh-Ro
Xx Female Gonadal Dysgenesis	Xx-Gd
46,Xx Ovotesticular Disorder Of Sex Development	46,Xx Ovotesticular Dsd
De La Chapelle Syndrome	Xx, Male Syndrome
46,Xx Gonadal Dysgenesis Complete Sry-Positive	46,Xx Sex Reversal Sry-Positive
46,Xx True Hermaphroditism Sry-Positive	Ovotesticular Dsd
Xx Male Sry-Positive	Ovotesticular Disorders Of Sex Development
46, Xx Testicular Disorders Of Sex Development	Resistant Ovary Syndrome
Dysgenetic Ovaries	Fsh-Ro - [Follicular Stimulating Hormone-Resistant Ovaries]
True Hermaphroditism	Ovotestis
True Hermaphrodite

46 Xx Gonadal Dysgenesis

Ovarian Dysgenesis	Gonadal Dysgenesis, 46,Xx
Dysgenesis, Ovarian

Esophagus Leiomyoma

Leiomyoma Of Esophagus

Uterine Hypoplasia

Blepharophimosis

Nephrotic Syndrome, Type 2

NPHS2	Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive
Srn1	Nephrotic Syndrome Type 2
Steroid-Resistant Autosomal Recessive Nephrotic Syndrome	Nephrotic Syndrome 2
Autosomal Recessive Steroid-Resistant Nephrotic Syndrome	Srn
Nephrotic Syndrome, Type 2, Susceptibility To	Idiopathic Nephrotic Syndrome

Combined Oxidative Phosphorylation Deficiency

Metabolic Acidosis

Mitochondrial Disease

Mitochondrial Diseases

Mitochondrial Disorder

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

Amyotrophic Lateral Sclerosis 20

Amyotrophic Lateral Sclerosis Type 20	ALS20
Sclerosis, Lateral, Amyotrophic, Type 20

Myopathy, Lactic Acidosis, And Sideroblastic Anemia

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

Blepharophimosis, Ptosis, And Epicanthus Inversus

Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome	BPES
Blepharophimosis Syndrome	Blepharophimosis, Epicanthus Inversus, And Ptosis, Type 1
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome	Bpes With Duane Retraction Syndrome
Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome Type 2	Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome Type 1
Blepharophimosis, Epicanthus Inversus, And Ptosis, Type 2	Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 2	Bpes Type 2
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Without Premature Ovarian Failure	Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
3q23 Microdeletion Syndrome	Bpes Plus
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 1	Bpes Type 1
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome With Premature Ovarian Failure	Blepharophimosis, Ptosis, Epicanthus Inversus
Autosomal Dominant Bpes Type I	Autosomal Recessive Bpes Type I
Bpes Type I	Bpes Type Ii
Bpes Without Ovarian Failure	Bpes With Ovarian Failure
Blepharophimosis Syndrome Type 1	Blepharophimosis Syndrome Type 2

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

Premature Menopause

Primary Ovarian Insufficiency	Premature Ovarian Failure
Hypergonadotropic Hypogonadism	Premature Ovarian Insufficiency
Menopause - Premature	Menopause Praecox
Menopause Premature	Menopause, Premature
Female Hypergonadotropic Hypogonadism	Hypergonadotrophic Ovarian Failure
Primary Female Hypogonadism	Pof - [Premature Ovarian Failure]
Ovarian Failure	Ovarian Secretion Suppression
Ovary Hyposecretion	Ovary Secretion Deficiency
Premature Menopause Nos

Leigh Syndrome

Leigh Disease	Infantile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency	LS
Sne	Leigh'S Disease
Leigh Syndrome Due To Mitochondrial Complex I Deficiency	Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
Subacute Necrotizing Encephalomyelopathy	Necrotizing Encephalopathy Infantile Subacute Of Leigh
Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency	Infantile Necrotizing Encephalomyelopathy
Juvenile Subacute Necrotizing Encephalomyelopathy	Leigh'S Necrotizing Encephalopathy
Subacute Necrotizing Encephalopathy	Juvenile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency	Leigh Syndrome Due To Mitochondrial Complex V Deficiency
Encephalopathy, Subacute Necrotizing, Infantile	Encephalopathy, Subacute Necrotizing, Juvenile
Maternally Inherited Leigh Syndrome	Subacute Necrotising Encephalomyelopathy
Subacute Necrotising Encephalopathy

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Melas Syndrome	MELAS
Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode
Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes	Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke
Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome
Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

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-RS08679	MRPS22 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	MRPS22	RGD	RGD:1585674
Macaca mulatta	MRPS22	VGNC	VGNC:74763
Mus musculus	MRPS22	MGD	MGI:1928137
Felis catus	MRPS22	VGNC	VGNC:63618
Bos taurus	MRPS22	VGNC	VGNC:31662

Name
Email *

	Sorry, but the email address you supplied was invalid.