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GBAS mutations could not explain phenotype of patients with combined oxidative phosphorylation system deficiencies.
CHCHD10 and GBAS are involved in oxidative phosphorylation.
This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. The encoded protein is localized to mitochondria and plays a role in oxidative phosphorylation. A pseudogene of this gene is located on the long arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
glioblastoma amplified sequence
, glioblastoma-amplified sequence
, protein NipSnap homolog 2
, 4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 2