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