TMEM47 Chromosome X

Transmembrane protein 47

1 variant 1 Health Risk

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What This Gene Does

This gene encodes a member of the PMP22/EMP/claudin protein family. The encoded protein is localized to the ER and the plasma membrane. In dogs, transcripts of this gene exist at high levels in the brain. [provided by RefSeq, Jul 2008]

Associated Conditions (1)

6 conditions

Key Variants

RS1114167296

Likely pathogenic

6 conditions, 6 conditions

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS1114167296	Health Risk	Likely pathogenic	6 conditions, 6 conditions