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Orofacial cleft 1 candidate 1 (pseudogene) (OFCC1)

Target
OFCC1
Molecular classification
Other (pseudogene)
01

Overview

Orofacial cleft 1 candidate 1 (abbreviated OFCC1) is a pseudogene located on human chromosome 6 and associated genomically with risk for orofacial cleft disorders[1][2][6][8]. Although originally identified as a potential causal locus and described with a variety of alternative names (MRDS1, Opo, Ojoplano), current evidence does not support its function as a classic protein target, receptor, enzyme, or part of a signaling pathway. There is no robust data confirming it encodes a functional protein or contributes directly to cellular or molecular biology. OFCC1 has been described in genome-wide association studies for cleft disorders and is sometimes cited in connection with rare genetic variants and non-cleft phenotypes (e.g., Tourette syndrome), but the absence of molecular function or experimental evidence validates it only as a genomic locus without druggable properties or direct clinical relevance as a molecular target[1][5][7][8].

Other names
MRDS1OpoOjoplanoOrofacial clefting chromosomal breakpoint region candidate 1 proteinOFCC1
02

Disease associations

Orofacial cleftOrofacial cleft 1Rare association with Tourette syndrome/chronic tic phenotype (one genetic variant report in Han Chinese patients, but not widely validated or supported as mechanistic)

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