LRPPRC - leucine rich pentatricopeptide repeat containing Gene

Homo sapiens

Also known as LSFC; GP130; LRP130; MC4DN5; CLONE-23970

Gene ID: 10128 | Gene type: protein coding

About LRPPRC

Cytogenetic location: 2p21 Genomic coordinates (GRCh38): 2:43,886,224-43,996,265 (from NCBI)

This gene has 71 transcripts (splice variants), 152 orthologues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 30.9), colon (RPKM 26.0) and 25 other tissues.

Summary

This gene encodes a leucine-rich protein that has multiple pentatricopeptide repeats (PPR). The precise role of this protein is unknown but studies suggest it may play a role in cytoskeletal organization, vesicular transport, or in transcriptional regulation of both nuclear and mitochondrial genes. The protein localizes primarily to mitochondria and is predicted to have an N-terminal mitochondrial targeting sequence. Mutations in this gene are associated with the French-Canadian type of Leigh syndrome. [provided by RefSeq, Mar 2012]

LRPPRC Products(1)

mRNA	Protein	Name
NM_133259.4	NP_573566.2	leucine-rich PPR motif-containing protein, mitochondrial precursor

LRPPRC Protein Structure

PPR

PPR_3

PPR

0
300
600
900
1200
1394 a.a.

Protein Preferred Names

Protein Names

leucine-rich PPR motif-containing protein, mitochondrial

130 kDa leucine-rich protein

Related Diseases

Diseases

Alias

Mitochondrial Complex Iv Deficiency, Nuclear Type 5

Leigh Syndrome, French Canadian Type	Mitochondrial Complex V Deficiency Nuclear Type 4
Cytochrome C Oxidase Deficiency, French Canadian Type	Lsfc
Cox Deficiency, French Canadian Type	MC5DN4
MC4DN5	Cox Deficiency, Saguenay-Lac-Saint-Jean Type
Leigh Syndrome, Saguenay-Lac-Saint-Jean Type	Mitochondrial Complex V Deficiency, Nuclear Type 4
French Canadian Leigh Disease	Leigh Syndrome, French-Canadian Type
Leigh Syndrome , French Canadian Type	Mitochondrial Complex V Deficiency, Atp5a1 Type
French Canadian Type Cox Deficiency	French Canadian Type Cytochrome C Oxidase Deficiency
French Canadian Type Leigh Syndrome	Saguenay Lac Saint Jean Type Cox Deficiency
Saguenay Lac Saint Jean Type Leigh Syndrome	Cox Deficiency, Saguenay Lac Saint Jean Type
Leigh Syndrome, Saguenay Lac Saint Jean Type	Mitochondrial Complex V Deficiency, Nuclear Type 4
Mitochondrial Complex V Deficiency Atp5a1 Type	Mitochondrial Complex V Deficiency Type 4
Mitochondrial Complex V Deficiency, Nuclear, Type 4

Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type

Cox Deficiency, French-Canadian Type	Cytochrome C Oxidase Deficiency, French-Canadian Type
Cytochrome Oxidase Deficiency, Saguenay-Lac-Saint-Jean Type	Leigh Syndrome, French-Canadian Type
Leigh Syndrome, Saguenay-Lac-Saint-Jean Type	Slsj-Cox Deficiency

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 Complex Iv Deficiency, Nuclear Type 1

Cytochrome C Oxidase Deficiency	Mitochondrial Complex Iv Deficiency
Cox Deficiency	Cytochrome-C Oxidase Deficiency Disease
MC1DN4	Cytochrome-C Oxidase Deficiency
MC4DN1	Mitochondrial Complex I Deficiency, Nuclear Type 4
Complex 4 Mitochondrial Respiratory Chain Deficiency	Complex Iv Deficiency
Mitochondrial Complex 1 Deficiency, Nuclear Type 4	Nuclear Type Mitochondrial Complex I Deficiency 4
Deficiency Of Mitochondrial Respiratory Chain Complex4	MT-C4D
Complex Iv Mitochondrial Respiratory Chain Deficiency	Lethal Neonatal Cardiomyopathy Hypertrophic Due To Cytochrome C Oxidase Deficiency
Mitochondrial Complex Iv Deficiency, Nuclear, Type 1

Metabolic Acidosis

Mitochondrial Metabolism Disease

Abnormality Of Mitochondrial Metabolism

Mitochondrial Diseases

Mitochondrial Disease

Mitochondrial Diseases

Mitochondrial Disorder

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

Spastic Ataxia

Spax	Ataxia, Spastic

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-RS07804	LRPPRC Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	LRPPRC	VGNC	VGNC:30996
Felis catus	LRPPRC	VGNC	VGNC:81115
Rattus norvegicus	LRPPRC	RGD	RGD:1306575
Canis familiaris	LRPPRC	VGNC	VGNC:42781
Mus musculus	LRPPRC	MGD	MGI:1919666
Macaca mulatta	LRPPRC	VGNC	VGNC:82177

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