VPS51 Chromosome 11

VPS51 subunit of GARP complex

3 variants 3 Health Risk

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What This Gene Does

This gene encodes a member of the vacuolar protein sorting-associated protein 51 family. The encoded protein is a component of the Golgi-associated retrograde protein complex which acts as a tethering factor for carriers in retrograde transport from the early and late endosomes to the trans-Golgi network. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

Gene Info

Gene Group

"Endosome-associated recycling protein (EARP) complex|Golgi associated retrograde protein (GARP) complex"

Locus Type

gene with protein product

Location

11q13.1

Ensembl

ENSG00000149823

Associated Conditions (2)

Pontocerebellar hypoplasia

type 13

Key Variants

RS1203009966

Pathogenic

Pontocerebellar hypoplasia, type 13, Pontocerebellar hypoplasia

Health Risk

RS1590815040

Pathogenic

Pontocerebellar hypoplasia, type 13, Pontocerebellar hypoplasia

Health Risk

RS752863502

Pathogenic

Pontocerebellar hypoplasia, type 13, Pontocerebellar hypoplasia

Health Risk

All Variants (3)

RSID	Category	Clinical Significance	Conditions
RS1203009966	Health Risk	Pathogenic	Pontocerebellar hypoplasia, type 13, Pontocerebellar hypoplasia
RS1590815040	Health Risk	Pathogenic	Pontocerebellar hypoplasia, type 13, Pontocerebellar hypoplasia
RS752863502	Health Risk	Pathogenic	Pontocerebellar hypoplasia, type 13, Pontocerebellar hypoplasia