Is a positive regulator of nascent focal adhesion assembly, involved in the modulation of endothelial cell attachment to the extracellular matrix.
Lymphatic malformation 13
LMPHM13
A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM13 is an autosomal recessive form characterized by fetal onset of pleural and peritoneal effusions and the presence of moderate to severe non-immune hydrops fetalis that often resolves with age. Affected individuals show relatively normal growth and development, apart from mild ascites and hemangiomas. Most patients have congenital cardiac defects.
None
The disease is caused by variants affecting the gene represented in this entry.
Aneurysm, intracranial berry, 12
ANIB12
A form of cerebral aneurysm, a focal abnormal dilatation of a blood vessel in the brain. Berry intracranial aneurysms, also known as saccular aneurysms, have a characteristic rounded shape and account for the vast majority of intracranial aneurysms. They are the most common cause of non-traumatic subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage.
None
The disease is caused by variants affecting the gene represented in this entry.
TMTSP, UNQ3010/PRO9769, THSD1, Thrombospondin type-1 domain-containing protein 1, Transmembrane molecule with thrombospondin module
Proteins
Oncology
94584Da
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ab153771