DISEASES

Disease-gene associations mined from literature

Human genes for oculocutaneous albinism

Oculocutaneous albinism [DOID:0050632]

An X-linked disease that is caused by mutation in the gene encoding the monocarboxylate transporter-8 which alters the structure and function of the SLC16A2 protein which is then unable to transport the thyroid triiodothyronine (T3) hormone into nerve cells of the developing brain affecting normal brain development resulting in intellectual disability and problems with movement.

Synonyms:  oculocutaneous albinism,  DOID:0050632

Linkouts:  OMIM #1 #2 #3 #4 #5 #6