RHBDL1

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Description

The RHBDL1 (rhomboid like 1) is a protein-coding gene located on chromosome 16.

RHBDL1 is thought to be involved in regulated intramembrane proteolysis, a process where proteins are cleaved within the cell membrane. This cleavage releases functional polypeptide segments from their membrane anchors, enabling them to perform their specific functions.

RHBDL1 is also known as RHBDL, RRP.

Associated Diseases

• isolated asymptomatic elevation of creatine phosphokinase
• Crigler-Najjar syndrome type 2
• pentosuria
• myopathy due to calsequestrin and SERCA1 protein overload
• transient familial neonatal hyperbilirubinemia
• metabolic myopathy due to lactate transporter defect
• gluthathione peroxidase deficiency
• hypercholanemia, familial, 2
• Rotor syndrome
• hemolytic anemia due to glutathione reductase deficiency
• neonatal intrahepatic cholestasis due to citrin deficiency
• Dubin-Johnson syndrome