Gene/Protein
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Enzyme
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Pivot Concepts:
Gene/Protein
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Target Concepts:
Gene/Protein
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Query: UMLS:C0268494 (
ATN
)
694
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Oculocutaneous albinism (OCA) is a complex genetic disease with great clinical heterogeneity. Four different types of OCA have been reported to date (
OCA1
, OCA2, OCA3, and OCA4). OCA4 was firstly reported in a Turkish OCA patient. The gene responsible for OCA4 is the human homologue of the mouse underwhite (uw) gene, which encodes the mem-brane-associated
transporter protein
(MATP). MATP gene is located on chromosome 5p13.3 and is divided into 7 exons and 6 introns. MATP gene is transcriptionally modulated by MITF, and encodes a protein of 530 amino acids. There are at least 18 pathologic mutations and 8 non-pathologic polymorphisms have been found.
...
PMID:[A new form of Oculocutaneous albinism, OCA4]. 1696 27
