AQP12B
Description
The AQP12B (aquaporin 12B) is a protein-coding gene located on chromosome 2.
AQP12B, like other aquaporins, plays a role in facilitating the movement of water and small uncharged molecules across cell membranes.
AQP12B is also known as INSSA3.
Associated Diseases
- isolated asymptomatic elevation of creatine phosphokinase
- macrothrombocytopenia, isolated, 2, autosomal dominant
- thrombocytopenia 4
- thrombocytopenia 7
- thyroid hormone metabolism, abnormal, 2
- autosomal dominant macrothrombocytopenia
- pentosuria
- beta-thalassemia-X-linked thrombocytopenia syndrome
- platelet-type bleeding disorder 9
- platelet-type bleeding disorder 15
- X-linked sideroblastic anemia 1
- hereditary chronic pancreatitis
- familial apolipoprotein C-II deficiency
- thrombocytopenia 2
- monosomy 7 myelodysplasia and leukemia syndrome 1
- bleeding disorder, platelet-type, 24
- platelet-type von Willebrand disease
- platelet-type bleeding disorder 10
- familial isolated congenital asplenia
