Anti-PNPT1 monoclonal antibody (DCABH-12965) Made to order

Rabbit anti-Human PNPT1 monoclonal antibody for WB, ELISA Datasheet

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Specifications


Host Species
Rabbit
Antibody Isotype
IgG
Species Reactivity
Human
Immunogen
A synthetic peptide of human PNPT1 is used for rabbit immunization.
Conjugate
Unconjugated

Target


Alternative Names
PNPT1; polyribonucleotide nucleotidyltransferase 1; polyribonucleotide nucleotidyltransferase 1, mitochondrial; 3 5 RNA exonuclease; old 35; OLD35
Entrez Gene ID
UniProt ID

Product Background


Gene summary
PNPT1 (Polyribonucleotide Nucleotidyltransferase 1) is a Protein Coding gene. Diseases associated with PNPT1 include combined oxidative phosphorylation deficiency 13 and deafness, autosomal recessive 70. Among its related pathways are Pyrimidine metabolism (KEGG) and Deadenylation-dependent mRNA decay. GO annotations related to this gene include nucleic acid binding and RNA binding. The protein encoded by this gene belongs to the evolutionary conserved polynucleotide phosphorylase family comprised of phosphate dependent 3'-to-5' exoribonucleases implicated in RNA processing and degradation. This enzyme is predominantly localized in the mitochondrial intermembrane space and is involved in import of RNA to mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency-13 and autosomal recessive nonsyndromic deafness-70. Related pseudogenes are found on chromosomes 3 and 7.
Antigen Description
PNPT1 is a subunit of the exosome complex, which is involved in 3-prime-to-5-prime exoribonuclease activity for RNA processing and degradation (Raijmakers et al. , 2002 [PubMed 12419256]). Combined oxidative phosphorylation deficiency 13 (COXPD13) [MIM:614932]: A mitochondrial disorder characterized by early onset severe encephalomyopathy, dystonia, choreoathetosis, bucofacial dyskinesias and combined mitochondrial respiratory chain deficiency. Nerve conductions velocities are decreased. Levels of plasma and cerebrospinal fluid lactate are increased. Note=The disease is caused by mutations affecting the gene represented in this entry. Deafness, autosomal recessive, 70 (DFNB70) [MIM:614934]: A form of non-syndromic deafness characterized by severe, bilateral hearing impairment with prelingual onset, resulting in inability to acquire normal speech. The function about PNPT1 antigen include 3-5-exoribonuclease activity; exonuclease activity; hydrolase activity; miRNA binding; poly(G) RNA binding; poly(U) RNA binding; polyribonucleotide nucleotidyltransferase activity; protein binding; transferase activity.
Pathway
Purine metabolism, organism-specific biosystem; Purine metabolism, conserved biosystem; Pyrimidine metabolism, organism-specific biosystem; Pyrimidine metabolism, conserved biosystem; RNA degradation, organism-specific biosystem; RNA degradation, conserved biosystem.

Citations


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References


Takahashi, H; Furukawa, T; et al. Identification of an overexpressed gene, HSPA4L, the product of which can provoke prevalent humoral immune responses in leukemia patients. EXPERIMENTAL HEMATOLOGY 35:1091-1099(2007).

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