Gray Platelet Syndrome

Gray platelet syndrome (GPS), or platelet alpha-granule deficiency, is a rare congenital bleeding disorder caused by a reduction or absence of alpha-granules in blood platelets, and the release of proteins normally contained in these granules into the marrow, causing myelofibrosis.

GPS is primarily inherited in an autosomal recessive manner, and the gene that is mutated in GPS has recently been mapped to chromosome 3p and identified as NBEAL2. NBEAL2 encodes a protein containing a BEACH domain that is predicted to be involved in vesicular trafficking. It is expressed in platelets and megakaryocytes and is required for the development of platelet alpha-granules. NBEAL2 expression is also required for the development of thrombocytes in zebrafish.

This text uses material from Wikipedia licensed under CC BY-SA

Latest Spotlight News

New target could eliminate lurking cancer stem cells

Scientists from Trinity College Dublin have identified a novel target that could help to identify 'cancer stem cells' while they are in their inactive state. The scientists could then jolt these cells into action so that ...

How can I tell if she's lying?

Sarcasm, white lies and teasing can be difficult to identify for those with certain disorders – new video inventory developed at McGill may help

Functional human liver cells grown in the lab

In new research appearing in the prestigious journal Nature Biotechnology, an international research team led by The Hebrew University of Jerusalem describes a new technique for growing human hepatocytes in the laboratory. ...

Combination therapy can prevent cytostatic resistance

Researchers at Karolinska Institutet have found a new way of preventing resistance to cytostatics used in the treatment of cancers such as medulloblastoma, the most common form of malignant brain tumour in children. The promising ...