Type IV Oculocutaneous Albinism

mutation in SLC45A2

Also Known As:

Oculocutaneous Albinism, Type IV; Albinism, Oculocutaneous, Type IV; Oculocutaneous albinism, type 4

Networked: 9 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Eye Diseases: 3522
- Hereditary Eye Diseases: 18
  - Albinism: 486
    - Oculocutaneous Albinism: 361
      - Type IV Oculocutaneous Albinism: 9
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Pigmentation Disorders: 149
    - Hypopigmentation: 836
      - Albinism: 486
        Oculocutaneous Albinism: 361
        Type IV Oculocutaneous Albinism: 9
  - Genetic Skin Diseases: 47
    - Albinism: 486
      - Oculocutaneous Albinism: 361
        Type IV Oculocutaneous Albinism: 9
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Amino Acid Metabolism: 1
      - Albinism: 486
        Oculocutaneous Albinism: 361
        Type IV Oculocutaneous Albinism: 9

Related Diseases

1.	Oculocutaneous albinism type 2

Experts

1.	Kono, Michihiro: 2 articles (08/2009 - 10/2006)
2.	Suzuki, Tamio: 2 articles (08/2009 - 10/2006)
3.	Tomita, Yasushi: 2 articles (08/2009 - 10/2006)
4.	Bauer, A: 1 article (10/2017)
5.	Caduff, M: 1 article (10/2017)
6.	Jagannathan, V: 1 article (10/2017)
7.	Leeb, T: 1 article (10/2017)
8.	Kamaraj, Balu: 1 article (11/2016)
9.	Purohit, Rituraj: 1 article (11/2016)
10.	Andreucci, Elena: 1 article (09/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Type IV Oculocutaneous Albinism:

1.	Proteins (Proteins, Gene)FDA Link 10/01/2006 - "Oculocutaneous albinism type 4 (OCA4) is an autosomal recessive hypopigmentary disorder caused by mutations in the Membrane-Associated Transporter Protein gene (SLC45A2). " 10/01/2006 - "Oculocutaneous albinism type 4: six novel mutations in the membrane-associated transporter protein gene and their phenotypes." 07/10/2009 - "The solute carrier family members include SLC45A2, which is mutated in oculocutaneous albinism type IV, SLC24A4 and SLC24A5, proteins implicated in the control of eye, hair, and skin pigmentation, and the P protein, encoded by the oculocutaneous albinism type II locus. " 11/01/2016 - "Oculocutaneous albinism type IV (OCA4) is an autosomal recessive inherited disorder which is characterized by reduced biosynthesis of melanin pigmentation in skin, hair, and eyes and caused by the genetic mutations in the membrane-associated transporter protein (MATP) encoded by SLC45A2 gene. "
2.	Melanins (Melanin)IBA 08/01/2009 - "Oculocutaneous albinism type IV (OCA4 [MIM606574]) caused by mutations of the SLC45A2 gene is an autosomal recessive disorder of pigmentation characterized by reduced biosynthesis of melanin pigment in the skin, hair, and eye. " 11/01/2016 - "Oculocutaneous albinism type IV (OCA4) is an autosomal recessive inherited disorder which is characterized by reduced biosynthesis of melanin pigmentation in skin, hair, and eyes and caused by the genetic mutations in the membrane-associated transporter protein (MATP) encoded by SLC45A2 gene. "
3.	RNA Splice SitesIBA 09/01/2015 - "Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites."
4.	Complementary DNA (cDNA)IBA 02/01/2008 - "Rescue from oculocutaneous albinism type 4 using medaka slc45a2 cDNA driven by its own promoter."
5.	Monophenol Monooxygenase (Tyrosinase)IBA 01/01/2014 - "The sum of these findings suggests that reduced glutathione selectively disrupts the intracellular trafficking of tyrosinase and tyrosinase-related protein-1 but not dopachrome tautomerase and Pmel17 to melanosomes, which results in the attenuation of melanization, probably serving as a putative model for oculocutaneous albinism type 4. "
6.	Glutathione (Reduced Glutathione)IBA 01/01/2014 - "The sum of these findings suggests that reduced glutathione selectively disrupts the intracellular trafficking of tyrosinase and tyrosinase-related protein-1 but not dopachrome tautomerase and Pmel17 to melanosomes, which results in the attenuation of melanization, probably serving as a putative model for oculocutaneous albinism type 4. "
7.	SugarsIBA 10/01/2017 - "Oculocutaneous albinism type 4 (OCA4) in humans and similar phenotypes in many animal species are caused by variants in the SLC45A2 gene, encoding a putative sugar transporter. "
8.	tyrosinase-related protein-1IBA 01/01/2014 - "The sum of these findings suggests that reduced glutathione selectively disrupts the intracellular trafficking of tyrosinase and tyrosinase-related protein-1 but not dopachrome tautomerase and Pmel17 to melanosomes, which results in the attenuation of melanization, probably serving as a putative model for oculocutaneous albinism type 4. "
9.	dopachrome isomeraseIBA 01/01/2014 - "The sum of these findings suggests that reduced glutathione selectively disrupts the intracellular trafficking of tyrosinase and tyrosinase-related protein-1 but not dopachrome tautomerase and Pmel17 to melanosomes, which results in the attenuation of melanization, probably serving as a putative model for oculocutaneous albinism type 4. "
10.	N-acetyltalosaminuronic acid (NAT)IBA 08/01/2002 - "Mutations in MATP result in pigmentation alterations in mice (underwhite, uw), in medaka (b-locus), and in man (Oculocutaneous Albinism Type 4, OCA4) (Nat. Genet. "