This is a list of human pseudogenes that are known to be disabled genes.
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- 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. [1]
- GULO pseudogene, associated with the production of Vitamin C
- hHaA pseudogene, associated with fur-like body hair: [2] see hypertrichosis
- DEFT1P pseudogene, associated with the immune system [3]
- HTR5BP pseudogene, associated with a variant of the 5-HT5 receptor. [4]
- 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. [5] Instead, this gene is mutated to encode for cryptochromes.
- TLR12P pseudogene, encodes a toll-like receptor. [6] In mice, this gene recognizes profilin. [7] It has also been duplicated in mice into TLR11 (recognizes profilin, bacterial flagellin). [8] TLR13 (recognizes bacterial ribosomal RNA) is another lost TLR, albeit with no apparent pseudogene. [9]
Dubious pseudogenes:
- 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. [10]
Resurrected pseudogenes: