Human chromosome 8 open reading frame 38 ELISA Kit | C8orf38 elisa kit
Human UPF0551 protein C8orf38, mitochondrial, C8orf38 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011]
Uniprot Description
NDUFAF6: Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) at early stages. May play a role in the biogenesis of MT-ND1. Defects in NDUFAF6 are a cause of mitochondrial complex I deficiency (MT-C1D). A disorder of the mitochondrial respiratory chain that causes a wide range of clinical disorders, from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. Belongs to the NDUFAF6 family. 3 isoforms of the human protein are produced by alternative splicing.
Chromosomal Location of Human Ortholog: 8q22.1
Cellular Component: cytoplasm; mitochondrial inner membrane; nucleus
Molecular Function: transferase activity
Biological Process: mitochondrial respiratory chain complex I assembly; biosynthetic process
Disease: Leigh Syndrome
Research Articles on C8orf38
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Product Notes
The Human C8orf38 ndufaf6 (Catalog #AAA9331327) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9331327 ELISA Kit recognizes Human C8orf38. It is sometimes possible for the material contained within the vial of "chromosome 8 open reading frame 38, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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