CHRFAM7A (CHRNA7 (cholinergic receptor, nicotinic, alpha 7) and FAM7A (family with sequence similarity 7A) fusion)
CHRFAM7A is a chimeric protein partial made up of a partial duplication of CHRNA7 (exnos 5-10) and 4 novel exons homologous to part of human chromosome 3. CHRFAM7A is human lineage specific but polymorphic with copies varying from 0-2 within the human population. CHRFAM7A is expressed across many different tissue types but highly expressed in human leukocytes. CHRFAM7A acts as a dominant negative modulator of CHRNA7 function and may be critical for receptor regulation in humans.
CHRFAM7A, a human-specific and partially duplicated α7-nicotinic acetylcholine receptor gene with the potential to specify a human-specific inflammatory response to injury., , J Leukoc Biol, 2015 Feb, Volume 97, Issue 2, p.247-57, (2015)
The chimeric gene CHRFAM7A, a partial duplication of the CHRNA7 gene, is a dominant negative regulator of α7*nAChR function., , Biochem Pharmacol, 2011 Oct 15, Volume 82, Issue 8, p.904-14, (2011)
Diversity of human copy number variation and multicopy genes., , Science, 10/2010, Volume 330, Issue 6004, p.641-6, (2010)
Lineage-specific gene duplication and loss in human and great ape evolution., , PLoS Biol, 07/2004, Volume 2, Issue 7, p.E207, (2004)