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.^[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:

• IRGM, associated with the immune system^[11]