Product Information
32100-1-PBS targets C2orf69 in WB, IHC, Indirect ELISA applications and shows reactivity with mouse, rat samples.
Tested Reactivity | mouse, rat |
Host / Isotype | Rabbit / IgG |
Class | Polyclonal |
Type | Antibody |
Immunogen | C2orf69 fusion protein Ag36779 Predict reactive species |
Full Name | chromosome 2 open reading frame 69 |
Calculated Molecular Weight | 43 kDa |
Observed Molecular Weight | 50 kDa |
GenBank Accession Number | BC036456 |
Gene Symbol | C2orf69 |
Gene ID (NCBI) | 205327 |
Conjugate | Unconjugated |
Form | Liquid |
Purification Method | Antigen affinity Purification |
UNIPROT ID | Q8N8R5 |
Storage Buffer | PBS only, pH 7.3. |
Storage Conditions | Store at -80°C. |
Background Information
Chromosome 2 open reading frame 69 (C2orf69, also known as COXPD53) is located in the mitochondrion. It can affect mitochondrial membrane potential and oxidative respiration in cultured neurons and controls the levels of the glycogen branching enzyme 1 (GBE1) (PMID: 34038740; 33945503). The variant in C2orf69 probably causes developmental regression, seizures, microcephaly, autistic features, and hypertonia (PMID: 37337918). Its deficiency can disrupt the development and homeostasis of the immune and central nervous systems (PMID: 34038740).