CHRFAM7A

Chr 15

CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion

Also known as: CHRNA7, CHRNA7-DR1, D-10

NCBI Gene: 89832 ENSG00000166664 UniProt: Q494W8

The protein product of this hybrid gene would form a truncated nicotinic acetylcholine receptor subunit that lacks most of the neurotransmitter binding domain but retains the transmembrane ion channel region, though translation of functional protein has not been confirmed. This gene is extremely tolerant to loss-of-function mutations based on population genetics data (very low pLI score), and no established Mendelian diseases have been linked to CHRFAM7A mutations. The gene represents a partial duplication of CHRNA7 located in a chromosomal region associated with neuropsychiatric disorders.

ResearchSummary from RefSeq

The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The family member CHRNA7, which is located on chromosome 15 in a region associated with several neuropsychiatric disorders, is partially duplicated and forms a hybrid with a novel gene from the family with sequence similarity 7 (FAM7A). Alternative splicing has been observed, and two variants exist, for this hybrid gene. The N-terminally truncated products predicted by the largest open reading frames for each variant would lack the majority of the neurotransmitter-gated ion-channel ligand binding domain but retain the transmembrane region that forms the ion channel. Although current evidence supports transcription of this hybrid gene, translation of the nicotinic acetylcholine receptor-like protein-encoding open reading frames has not been confirmed. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.22

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)