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. 2016 May 25;24(9):1235–1243. doi: 10.1038/ejhg.2016.35

Table 2. Other genes associated with 2q23.1 deletion syndrome.

Gene OMIM Cytogenetic location Functiona
ORC4 *603056 2q22.3-q23.1 Initiation of DNA replication in eukaryotic cells; mutations cause the recessive disorder, Meier–Gorlin syndrome, with severe short stature and microcephaly
EPC2 *611000 2q23.1 Component of an essential chromatin regulatory complex; role in transcription and DNA repair; association with Alzheimer disease; critical co-factors in acute myeloid leukemia
KIF5C *604593 2q23.1 Role in brain functioning, development, survival, and plasticity by regulating the transport of cargo along microtubules within axons, dendrites, and synapses; mutations cause malformations of cortical development and microcephaly
a

Functions summarized from Gene and Online Mendelian Inheritance in Man (OMIM) from NCBI.