Disease Info Card

Oculocutaneous Albinism Type 2

Information about Oculocutaneous Albinism Type 2: characteristics, related genes and pathways, plus antibodies you can use for research. This page is being enriched constantly, if you see some information you would like this page to include please send your suggestions to us.

Overview of Oculocutaneous Albinism Type 2

Most recent studies have shown that Oculocutaneous Albinism Type 2 shares some biological mechanisms with albinism, albinism-ocular, albinism-oculocutaneous, angelman-syndrome, bleeding-tendency, disorder-of-eye, hemorrhage, hemorrhagic-disorders, hermanski-pudlak-syndrome, hypopigmentation-disorder, malignant-neoplasm-of-skin, malignant-neoplasms, melanoma, microcephaly, myopia, nystagmus, pigmentation-disorders, prader-willi-syndrome, skin-neoplasms.

Among the many pathways, these few ones have gauged particular interests from scientists studying Oculocutaneous Albinism Type 2, and have been seen in publications frequently: Cell Death, Eye Pigmentation, Glycosylation, Localization, Pigmentation, Platelet Aggregation, Reflex, Secretion, Transport, Tyrosine Transport

Quite a number of genes have been found to play important roles in Oculocutaneous Albinism Type 2, such as ASIP, ATP6V0A1, B3GALNT1, CDKL5, CDKN2A, DCT, GPR143, HBB, HERC2, IGF1R, KAT2B, MC1R, OCA2, RFC1, RFC2, RFC4, SAA1, SLC45A2, TYR, TYRP1. See what Boster has to offer for the research of these genes by clicking the gene name links below and view a more detailed info card/product listing for that gene.

In a later update, we will include information such as current drugs and therapy solutions as well as on-going and past clinical trials for this disease. Plesae stay updated.

Oculocutaneous Albinism Type 2 Related Genes

click to see detail information for each gene

ASIP ATP6V0A1 B3GALNT1
CDKL5 CDKN2A DCT
GPR143 HBB HERC2
IGF1R KAT2B MC1R
OCA2 RFC1 RFC2
RFC4 SAA1 SLC45A2
TYR TYRP1

Pathways Related to Oculocutaneous Albinism Type 2

This information is being compiled and will come in a future update

Cell Death Eye Pigmentation Glycosylation
Localization Pigmentation Platelet Aggregation
Reflex Secretion Transport
Tyrosine Transport