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Mutations in a single copy of SNAI2 have also been found to cause patches of hair depigmentation without any other symptoms. [25] Type 2E is caused by an autosomal dominant mutation in the gene SOX10. [4] Rarely, a mutation in a gene other than those currently known may be responsible for a Waardenburg syndrome with features of type 2.
Blue cone monochromacy (BCM) is an inherited eye disease that causes severe color blindness, poor visual acuity, nystagmus, hemeralopia, and photophobia due to the absence of functional red (L) and green (M) cone photoreceptor cells in the retina.
The irises of human eyes exhibit a wide spectrum of colours. Eye color is a polygenic phenotypic trait determined by two factors: the pigmentation of the eye's iris [1] [2] and the frequency-dependence of the scattering of light by the turbid medium in the stroma of the iris.
BCM results from mutations in a single red or red–green hybrid opsin gene, mutations in both the red and the green opsin genes or deletions within the adjacent LCR (locus control region) on the X chromosome. [3] Green cone monochromacy (GCM), also known as M-cone monochromacy, is a condition where the blue and red cones are absent in the ...
Although infrequently seen in humans, complete heterochromia is more frequently observed in species of domesticated mammals. The blue eye occurs within a white spot, where melanin is absent from the skin and hair (see Leucism). These species include the cat, particularly breeds such as Turkish Van, Khao Manee and (rarely) Japanese Bobtail.
P protein, also known as melanocyte-specific transporter protein or pink-eyed dilution protein homolog, is a protein that in humans is encoded by the oculocutaneous albinism II (OCA2) gene. [5] The P protein is believed to be an integral membrane protein involved in small molecule transport, specifically of tyrosine —a precursor of melanin .
These include issues around the governance of the therapy, whether treatment should be available only to those who can afford it, and whether the availability of treatment creates a stigma for those with color blindness. Given the large number of people with color blindness, there is also the question of whether color blindness is a disorder. [16]
HERC2 is a giant E3 ubiquitin protein ligase, implicated in DNA repair regulation, pigmentation and neurological disorders.It is encoded by a gene of the same name belonging to the HERC family, which typically encodes large protein products with C-terminal HECT domains and one or more RCC1-like (RLD) domains.