What is the difference between OCA1 and OCA2?
What is the difference between OCA1 and OCA2?
People with OCA2 generally have more pigment and better vision than those with OCA1, but cannot tan like some with OCA1b. A little pigment can develop in freckles or moles. People with OCA2 usually have fair skin, but are often not as pale as OCA1.
What does the OCA2 gene do?
The OCA2 gene (formerly called the P gene) provides instructions for making a protein called the P protein. This protein is located in melanocytes, which are specialized cells that produce a pigment called melanin. Melanin is the substance that gives skin, hair, and eyes their color.
Is OCA2 dominant or recessive?
autosomal-recessive
Oculocutaneous albinism type 2 (OCA2) is a human autosomal-recessive hypopigmentation disorder associated with pathological mutations of the OCA2 gene.
What is the difference between Oculocutaneous and ocular albinism?
Ocular albinism has clinical manifestations isolated to the eyes, whereas oculocutaneous albinism also results in light-colored hair and skin.
What gene is affected by OCA1?
tyrosinase (TYR) gene
OCA1 is associated with abnormalities (mutations) in the tyrosinase (TYR) gene. The TYR gene is responsible for the production of the enzyme tyrosinase which is the key enzyme in the formation of melanin pigment.
Who does OCA2 affect?
In contrast, OCA2 is the most common type of albinism in African Black OCA patients. The overall prevalence of OCA2 is estimated to be 1:36,000 in the USA, but is about 1:10,000 among African Americans [4]. It affects 1 in 3,900 of the population in some parts of the southern part of Africa [5].
What is HERC2 and OCA2?
Although there are about 16 different genes responsible for eye color, it is mostly attributed to two adjacent genes on. chromosome 15, hect domain and RCC1-like domain-containing protein 2 (HERC2) and ocular albinism (that is, oculocutaneous. albinism II (OCA2)).
What are the 4 different types of albinism?
Types of albinism include:
- oculocutaneous albinism (OCA)
- ocular albinism.
- Hermansky-Pudlak syndrome.
- Chediak-Higashi syndrome.
- Griscelli syndrome.
What causes OCA1 mutation?
OCA1 results from mutations of the tyrosinase gene and presents with the life-long absence of melanin pigment after birth (OCA1A) or with the development of minimal-to-moderate amounts of cutaneous and ocular pigment (OCA1B). Other types of OCA have variable amounts of cutaneous and ocular pigment.
What protein does OCA2 produce?
The P protein is believed to be an integral membrane protein involved in small molecule transport, specifically of tyrosine – a precursor of melanin. Certain mutations in OCA2 result in type 2 oculocutaneous albinism….OCA2.
| RNA expression pattern | |
|---|---|
| BioGPS | More reference expression data |
What causes OCA2?
OCA2 is associated with mutations in the OCA2 gene (also called the P gene). The OCA2 gene is responsible for production of the OCA2 protein.
What eye color is OCA2?
brown eyes
The OCA2 gene also contains numerous regions for eye color expression. Over 300 SNPs for eye color have been identified on the gene, but classification of their results proved too arduous. The gene contains a main coding region for brown eyes (BEY2 15q11-15) and hazel eyes (BEY1).