Target intelligence / Profile preview

Chromosome 9 open reading frame 57 (C9orf57)

Target
C9orf57
Molecular classification
Other (uncharacterized protein)
01

Overview

Chromosome 9 open reading frame 57 (C9orf57) is a protein-coding gene that encodes a small (approximately 14 kDa) uncharacterized protein. C9orf57 has been observed to show nuclear localization in testicular tissues, particularly in the context of germ cell development or differentiation, suggesting a possible (but unconfirmed) role in spermatogenesis. Its specific biological functions remain poorly defined and it is not currently considered a canonical therapeutic target such as a receptor, enzyme, or transporter. There are no known drugs that interact with C9orf57, no established roles in major common disease pathways such as cancer or neurodegeneration, and no validated utility as a biomarker or safety concern. Diseases genetically associated with C9orf57 include some forms of autosomal recessive deafness, but mechanistic details are lacking. Alternative names and database identifiers for this gene and protein are numerous, most commonly C9orf57 and "uncharacterized protein C9orf57".

Other names
Uncharacterized protein C9orf57RP11-346E17.3CI057GC09M070123GC09M070113GC09M071895GC09M073856GC09M074666GC09M044488
02

Biological functions

Other (putative roles in germ cell development and/or differentiation)
03

Disease associations

Other (associated with Deafness, Autosomal Recessive 23 and 21)

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