CMTM7

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Description

The CMTM7 (CKLF like MARVEL transmembrane domain containing 7) is a protein-coding gene located on chromosome 3.

CMTM7 is also known as CKLFSF7.

Associated Diseases

• isolated asymptomatic elevation of creatine phosphokinase
• plasma fibronectin deficiency
• pentosuria
• familial primary pulmonary hypoplasia
• myopathy due to calsequestrin and SERCA1 protein overload
• pyknoachondrogenesis
• metabolic myopathy due to lactate transporter defect