The ORC6 gene is located on chromosome 16 at 16q11.2 and encodes origin recognition complex subunit 6. The origin recognition complex (ORC) assembles at origins of replication and recruits additional proteins of the pre-replication complex needed to initiate DNA replication (Klingseisen and Jackson, 2011, PMID: 21979914). ORC6 was first reported in relation to Meier-Gorlin syndrome 3 in 2011 (Bicknell et al., PMID: 21358632). Meier-Gorlin syndrome 3 is an autosomal recessive primordial dwarfism characterized by a clinical triad of
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