List of disabled human pseudogenes
This is a list of human pseudogenes that are known to be disabled genes.
- NCF1C pseudogene, associated with a type of white blood cell. It is related to NCF1. It may disable NCF1 by recombination, leading to chronic granulomatous disease.
- GULO pseudogene, associated with the production of Vitamin C
- hHaA pseudogene, associated with fur-like body hair: see hypertrichosis
- DEFT1P pseudogene, associated with the immune system
- HTR5BP pseudogene, associated with a variant of the 5-HT5 receptor.
- Urate oxidase pseudogene, associated with the processing of uric acid
- Photolyase pseudogene, associated with repairing DNA damaged by UV radiation.
- * Photolyase is no longer encoded for despite obvious advantages. Instead, this gene is mutated to encode for cryptochromes.
- TLR12P pseudogene, encodes a toll-like receptor. In mice, this gene recognizes profilin. It has also been duplicated in mice into TLR11. TLR13 is another lost TLR, albeit with no apparent pseudogene.
- WNT3A. It does encode a functional protein in humans, but has no apparent consequence upon mutation. In mice, loss of the gene causes tail shortening loss.
- IRGM, associated with the immune system