CACNG7 Chromosome 19

Calcium voltage-gated channel auxiliary subunit gamma 7

1 variant 1 Health Risk

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What This Gene Does

The protein encoded by this gene is a type II transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type I TARP and a calcium channel gamma subunit. [provided by RefSeq, Dec 2010]

Gene Info

Gene Group

Calcium channel auxiliary gamma subunits

Locus Type

gene with protein product

Location

19q13.42

Ensembl

ENSG00000105605

Associated Conditions (1)

Intellectual disability

Key Variants

RS778171763

Likely pathogenic

Intellectual disability, Intellectual disability

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS778171763	Health Risk	Likely pathogenic	Intellectual disability, Intellectual disability