CHRFAM7A
Description
The CHRFAM7A (CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion) is a protein-coding gene located on chromosome 15.
The CHRFAM7A gene encodes a protein called the CHRNA7-FAM7A fusion protein. This protein is a hybrid, combining parts of the CHRNA7 gene (which is involved in neurotransmitter signaling) and the FAM7A gene. The CHRNA7 gene is located on chromosome 15, a region linked to various neuropsychiatric disorders. This hybrid gene exists in two forms due to alternative splicing. Both forms lack the part of the CHRNA7 gene that normally binds neurotransmitters, but they retain the part that forms the ion channel. While evidence suggests the gene is transcribed, the actual production of the protein hasn't been confirmed. Notably, this gene is absent in nonhuman primates and is significantly less common in people of African descent compared to Caucasians.
CHRFAM7A is also known as CHRNA7, CHRNA7-DR1, D-10, NACHRA7.
Associated Diseases
- Leber congenital amaurosis 10
- hypertriglyceridemia 2
- cholesterol-ester transfer protein deficiency
- thyroid hormone metabolism, abnormal, 2
- Kallmann syndrome
- sitosterolemia
- homozygous familial hypercholesterolemia
- X-linked parkinsonism-spasticity syndrome
- immune deficiency, familial variable
- hyper-IgM syndrome type 3
- dystonia 16
- hyper-IgM syndrome type 2
- hypercholesterolemia, autosomal dominant, 3
- hyperlipidemia due to hepatic triglyceride lipase deficiency
- immunodeficiency, common variable, 14
- X-linked dystonia-parkinsonism
- hyper-IgM syndrome type 5
- hypercholesterolemia, autosomal dominant, type B
