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Chromosome 17 open reading frame 75 (C17orf75)

Target: C17orf75
Molecular classification: Other (Protein of unknown or miscellaneous function; predicted component of the WDR11 vesicle-trafficking complex)

Overview

Chromosome 17 open reading frame 75 (C17orf75), also known as Protein Njmu-R1 or SRI2, is a human protein-coding gene located at chromosome 17q11.2. The protein is proposed to function as part of a trimeric complex (with FAM91A1 and SRI1) involved in the capture of Golgi-derived vesicles, especially those related to the AB toxin ricin, with cellular localization near the cytosol and Golgi apparatus. C17orf75 is ubiquitously expressed at low-to-moderate levels in human tissues, with higher expression in brain and testis, and demonstrates increased expression in various cancers, making it of interest as a potential cancer biomarker. Its precise function and relevance for therapeutic targeting remain unclear, and currently, there are no known drugs or established disease-modifying roles for this gene or its protein product.

Other names: Protein Njmu-R1NJMU-R1SRI2Sensitization to ricin complex subunit 2Spermatogenesis-related protein5730455P16RikRGD1310429C10h17orf75RIKEN cDNA 5730455P16 gene

Biological functions

Intracellular protein transportVesicle tethering to GolgiPossible role in spermatogenesisRegulation of cell proliferation or survival (suggested by expression data in cancer)

Disease associations

Cancer (biomarker candidate in several malignancies, including retinoblastoma, oral squamous cell carcinoma, hepatocellular carcinoma)Possible association with Leber congenital amaurosis 1 (database linkage, not mechanism-based)

Biomarkers

Potential cancer biomarker (upregulated in retinoblastoma, oral squamous cell carcinoma, and hepatocellular carcinoma for diagnostic or disease state monitoring)

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