Chromosome 9 open reading frame 72 (C9orf72) gene is mapped to human chromosome 9p21. The gene codes for a highly conserved uncharacterized protein. It is expressed in various tissues such as cerebellum, cortex and spinal cord. C9orf72 gene contains hexanucleotide GGGGCC repeat in its noncoding region.
Synonyms: Anti-Uncharacterized protein C9orf72
Storage: -20C
Application: Applications in which this antibody has been used successfully, and the associated peer-reviewed papers, are given below.Immunohistochemistry (1 paper)Western Blotting (1 paper)
Biochem Physiol Actions: Non- coding repeat expansion in chromosome 9 open reading frame 72 (C9orf72) gene leads to familial frontotemporal lobar degeneration and amyotrophic lateral sclerosis (FTLD/ALS).Bioinformatics study states that C9orf72 protein might contain DENN (differentially expressed in normal versus neoplastic cells) domain, which helps the protein in regulating Rab-dependent intracellular trafficking. The encoded protein co-localized with Rab proteins is known to regulate endocytosis and autophagy in neurons. Cellular function of this protein remains unknown.
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