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Gene ID: 91574 | C12orf65 Antibody Resource


C12orf65 Antibody Resource
Gene Full Name: 
chromosome 12 open reading frame 65
Uniprot: 
Q9H3J6
Protein Name: 
probable peptide chain release factor C12orf65, mitochondrial
Nucleotide: 
NM_152269
Alias: 
SPG55;COXPD7;
Ensembl: 
ENSG00000130921
Location: 
12q24.31
HPRD: 
08791
NCBI Gene: 
91574
MIM: 
613541

Summary: 
This nuclear gene encodes a mitochondrial matrix protein that appears to contribute to peptide chain termination in the mitochondrial translation machinery. Two different 1 bp deletions (resulting in the same premature stop codon)result in decreased mitochondrial translation, decreased levels of oxidative phosphorylation complexes and encepthalomyopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]
Function: 
May act as a codon-independent translation release factor that has lost all stop codon specificity and directs the termination of translation in mitochondrion .
Subcellular location: 
Mitochondrion .
PTM: 
Disease: 
Combined oxidative phosphorylation deficiency 7 (COXPD7) [MIM:613559]: A mitochondrial disease resulting in encephalomyopathy. Clinical manifestations include psychomotor delay and regression, ataxia, optic atrophy, nystagmus and muscle atrophy and weakness. Note: The disease is caused by mutations affecting the gene represented in this entry. Spastic paraplegia 55, autosomal recessive (SPG55) [MIM:615035]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. Complicated forms are characterized by the addition of such neurological features as spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations such as dysmorphism, albinism, retinitis pigmentosa, deafness, dementia, amyotrophy and ichthyosis. Note: The disease is caused by mutations affecting the gene represented in this entry.
Biotechnological use: 

Antibodies
TypeCatalogNameClonalitySpecies ReactivityApplicationSizePriceMore Info
Polyclonal Antibody ARP68112_P050 C12orf65 Antibody - C-terminal region (ARP68112_P050) Human WB 50ug $289 Details
Polyclonal Antibody ARP68111_P050 C12orf65 Antibody (ARP68111_P050) Polyclonal Bovine, Dog, Guinea pig, Horse, Human, Mouse, Pig Not tested 50 ug $125 Details
Polyclonal Antibody OAAB13492 C12orf65 antibody - C - terminal region (OAAB13492) Human WB 400ul $289 Details

Show all C12orf65 antibodies


Product Images
C12orf65 Antibody - C-terminal region (ARP68112_P050) in Human Jurkat cells using Western Blot

Sample Type: Human Jurkat


C12orf65 Protocols

Publications
Related Gene Trend Categories
Species
CatalogPredicted Species & TargetTarget ReferencePredicted Homology
ARP68111 Cat C12orf65 antibody; Felis catus C12orf65 antibody M3WMD9 100.0%
ARP68112 Cat C12orf65 antibody; Felis catus C12orf65 antibody M3WMD9 86.0%
ARP68111 Chimpanzee C12orf65 antibody; Pan troglodytes C12orf65 antibody H2Q756 100.0%
ARP68112 Chimpanzee C12orf65 antibody; Pan troglodytes C12orf65 antibody H2Q756 93.0%
ARP68111 Chinese softshell turtle C12orf65 antibody; Pelodiscus sinensis C12orf65 antibody K7G2J2 83.0%
ARP68111 Dog C12orf65 antibody; Canis familiaris C12orf65 antibody E2QXR1 92.0%
ARP68112 Dog C12orf65 antibody; Canis familiaris C12orf65 antibody E2QXR1 79.0%
ARP68111 Domestic duck C12orf65 antibody; Anas platyrhynchos C12orf65 antibody U3J8X6 83.0%
ARP68111 European domestic ferret C12orf65 antibody; Mustela putorius furo C12orf65 antibody M3XRG3 100.0%
ARP68112 European domestic ferret C12orf65 antibody; Mustela putorius furo C12orf65 antibody M3XRG3 79.0%
ARP68111 Gray short-tailed opossum C12orf65 antibody; Monodelphis domestica C12orf65 antibody F6PJ93 85.0%
ARP68111 Horse C12orf65 antibody; Equus caballus C12orf65 antibody F7CEZ0 100.0%
ARP68112 Horse C12orf65 antibody; Equus caballus C12orf65 antibody F7CEZ0 86.0%
ARP68112 Human C12orf65 antibody; Homo sapiens C12orf65 antibody F5H4X5 100.0%
ARP68111 Human C12orf65 antibody; Homo sapiens C12orf65 antibody Q9H3J6 100.0%
ARP68112 Human C12orf65 antibody; Homo sapiens C12orf65 antibody Q9H3J6 100.0%
ARP68112 Pig C12orf65 antibody; Sus scrofa C12orf65 antibody F1RFL3 93.0%
ARP68111 Pig C12orf65 antibody; Sus scrofa C12orf65 antibody F1RFL3 92.0%
ARP68111 Small-eared galago C12orf65 antibody; Otolemur garnettii C12orf65 antibody H0X3F1 100.0%
ARP68112 Small-eared galago C12orf65 antibody; Otolemur garnettii C12orf65 antibody H0X3F1 93.0%
ARP68111 Sumatran orangutan C12orf65 antibody; Pongo abelii C12orf65 antibody H2NJ12 100.0%
ARP68112 Sumatran orangutan C12orf65 antibody; Pongo abelii C12orf65 antibody H2NJ12 93.0%
ARP68147 Tasmanian devil C12orf65 antibody; Sarcophilus harrisii C12orf65 antibody G3WQE8 85.0%
ARP68147 Tasmanian devil C12orf65 antibody; Sarcophilus harrisii C12orf65 antibody G3WQE9 85.0%
ARP68111 Thirteen-lined ground squirrel C12orf65 antibody; Spermophilus tridecemlineatus C12orf65 antibody I3MRL1 93.0%
ARP68112 Thirteen-lined ground squirrel C12orf65 antibody; Spermophilus tridecemlineatus C12orf65 antibody I3MRL1 86.0%
ARP68111 White-tufted-ear marmoset C12orf65 antibody; Callithrix jacchus C12orf65 antibody F6Y5X5 93.0%
ARP68112 White-tufted-ear marmoset C12orf65 antibody; Callithrix jacchus C12orf65 antibody F6Y5X5 86.0%

Tissue & Cell Line Gene Expression Data