AQP12A

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Description

The AQP12A (aquaporin 12A) is a protein-coding gene located on chromosome 2.

Aquaporin-12A (AQP12A) plays a crucial role in regulating the movement of water and small, uncharged molecules across cell membranes. This transport function is essential for maintaining cellular hydration and fluid balance within the body.

AQP12A is also known as AQP-12, AQP12, AQPX2.

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