NP_573566.2
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
157,905 Da
NCBI Official Full Name
leucine-rich PPR motif-containing protein, mitochondrial
NCBI Official Synonym Full Names
leucine rich pentatricopeptide repeat containing
NCBI Official Synonym Symbols
LSFC; GP130; LRP130; CLONE-23970 [Similar Products]
NCBI Protein Information
leucine-rich PPR motif-containing protein, mitochondrial
UniProt Protein Name
Leucine-rich PPR motif-containing protein, mitochondrial
UniProt Synonym Protein Names
130 kDa leucine-rich protein; LRP 130; GP130
UniProt Synonym Gene Names
UniProt Entry Name
LPPRC_HUMAN
NCBI Summary for LRPPRC
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]
UniProt Comments for LRPPRC
LRPPRC: May play a role in RNA metabolism in both nuclei and mitochondria. In the nucleus binds to HNRPA1-associated poly(A) mRNAs and is part of nmRNP complexes at late stages of mRNA maturation which are possibly associated with nuclear mRNA export. May bind mature mRNA in the nucleus outer membrane. In mitochondria binds to poly(A) mRNA. Plays a role in translation or stability of mitochondrially encoded cytochrome c oxidase (COX) subunits. May be involved in transcription regulation. Cooperates with PPARGC1A to regulate certain mitochondrially encoded genes and gluconeogenic genes and may regulate docking of PPARGC1A to transcription factors. Seems to be involved in the transcription regulation of the multidrug-related genes MDR1 and MVP. Part of a nuclear factor that binds to the invMED1 element of MDR1 and MVP gene promoters. Binds single-stranded DNA. Defects in LRPPRC are the cause of Leigh syndrome French- Canadian type (LSFC). Leigh syndrome is a severe neurological disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions that is commonly associated with systemic cytochrome c oxidase (COX) deficiency. In the Saguenay-Lac Saint Jean region of Quebec province in Canada, a biochemically distinct form of Leigh syndrome with COX deficiency has been described. Patients have been observed to have a developmental delay, hypotonia, mild facial dysmorphism, chronic well-compensated metabolic acidosis, and high mortality due to episodes of severe acidosis and coma. Enzyme activity was close to normal in kidney and heart, 50% of normal in fibroblasts and skeletal muscle, and nearly absent in brain and liver. LSFC patients show reduced (<30%) levels of LRPPRC in both fibroblast and liver mitochondria and a specifically reduced translation of COX subunits MT-CO1/COXI and MT-CO3 (COXIII).
Protein type: RNA-binding
Chromosomal Location of Human Ortholog: 2p21
Cellular Component: condensed nuclear chromosome; cytoskeleton; membrane; microtubule; mitochondrion; nuclear inner membrane; nuclear outer membrane; nucleoplasm; nucleus; perinuclear region of cytoplasm; ribonucleoprotein complex
Molecular Function: actin filament binding; beta-tubulin binding; microtubule binding; protein binding; RNA binding; single-stranded DNA binding; ubiquitin protein ligase binding
Biological Process: mitochondrion transport along microtubule; mRNA transport; regulation of transcription, DNA-dependent; transcription, DNA-dependent
Disease: Leigh Syndrome, French Canadian Type
Research Articles on LRPPRC
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with anti-LRPPRC antibody
Pathways associated with anti-LRPPRC antibody
Diseases associated with anti-LRPPRC antibody
Organs/Tissues associated with anti-LRPPRC antibody
|