TMEM63C

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Description

The TMEM63C (transmembrane protein 63C) is a protein-coding gene located on chromosome 14.

TMEM63C acts as an osmosensitive calcium-permeable cation channel. It is also required for the functional integrity of the kidney glomerular filtration barrier.

TMEM63C is also known as C14orf171, CSC1, SPG87, hsCSC1.

Associated Diseases

• Spastic paraplegia 87, autosomal recessive