SLC37A4 solute carrier family 37 member 4

Gene ID: 2542, updated on 12-Nov-2024
Gene type: protein coding
Also known as: G6PT; SPX4; CDG2W; G6PT1; G6PT2; G6PT3; GSD1b; GSD1c; GSD1d; TRG19; TRG-19; PRO0685

Summary

This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum. Mutations in this gene have been associated with various forms of glycogen storage disease. Alternative splicing in this gene results in multiple transcript variants.[provided by RefSeq, Aug 2009]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Congenital disorder of glycosylation, type IIw MedGen: C5561986OMIM: 619525GeneReviews: Not available	See labs
Glucose-6-phosphate transport defect MedGen: C0268146OMIM: 232220GeneReviews: Glycogen Storage Disease Type I	See labs
Phosphate transport defect MedGen: C0342749OMIM: 232240GeneReviews: Not available	See labs

Genomic context

Location:: 11q23.3

Sequence:: Chromosome: 11; NC_000011.10 (119024112..119030877, complement)

Total number of exons:: 12

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 SLC37A4 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
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
SLC37A4 database
Variation Viewer
Related Variants

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