VPS54 VPS54 subunit of GARP complex

Gene ID: 51542, updated on 28-Oct-2024
Gene type: protein coding
Also known as: WR; HCC8; SLP-8p; VPS54L; hVps54L; PPP1R164

Summary

This gene encodes for a protein that in yeast forms part of a trimeric vacuolar-protein-sorting complex that is required for retrograde transport of proteins from prevacuoles to the late Golgi compartment. As in yeast, mammalian Vps54 proteins contain a coiled-coil region and dileucine motifs. Alternative splicing results in multiple transcript variants encoding different isoforms [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. GeneReviews: Not available

Genomic context

Location:: 2p15-p14

Sequence:: Chromosome: 2; NC_000002.12 (63892150..64019428, complement)

Total number of exons:: 29

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for VPS54 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ALSoD/VPS54 genetic mutations
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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