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Chromosome 12 open reading frame 60 (C12orf60)

Target
C12orf60
Molecular classification
Other (contains domain of unknown function DUF4533; not classified as an enzyme, receptor, ion channel, transporter, or transcription factor)
01

Overview

Chromosome 12 open reading frame 60 (C12orf60) is a human gene encoding an uncharacterized protein, also referred to as LOC144608 or MGC47869, consisting of 245 amino acids and predicted to localize predominantly in the nucleus. The protein lacks transmembrane domains and is rich in alpha-helices, containing a conserved domain of unknown function (DUF4533, pfam15047) shared with very few other gene products. C12orf60 displays regulated expression in human tissues, with highest levels seen in testes and colon, as well as presence in the kidney, certain brain regions, and breast carcinomas. Its biological role remains poorly defined, although protein–protein interaction data suggest possible interactions with bone morphogenetic protein 4 (BMP4) and other proteins, without consensus on functional implications. In the literature, C12orf60 has been identified as a candidate biomarker for monitoring allergen immunotherapy response but is not established as a therapeutic target or drug receptor.

Other names
LOC144608MGC47869uncharacterized protein C12orf60
02

Biological functions

Other (unknown; implicated in nuclear processes by predicted localization, possible protein-protein interactions)
03

Disease associations

Other (associated with rare diseases such as Meconium Ileus, Smith-McCort Dysplasia, Congenital Diarrhea 6; potential biomarker for allergen immunotherapy effectiveness)
04

Biomarkers

Potential biomarker for efficacy of allergen immunotherapy

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