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Protein Coding Gene : Slc52a3 solute carrier protein family 52, member 3

Primary Identifier  MGI:1916948 Organism  mouse, laboratory
Chromosome  2 NCBI Gene Number  69698
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Enables riboflavin transmembrane transporter activity. Involved in flavin adenine dinucleotide biosynthetic process and riboflavin metabolic process. Acts upstream of or within cellular response to heat. Is active in plasma membrane. Is expressed in several structures, including central nervous system; genitourinary system; gut; inner ear vestibular component; and liver. Human ortholog(s) of this gene implicated in Brown-Vialetto-Van Laere syndrome 1 and Fazio-Londe disease. Orthologous to human SLC52A3 (solute carrier family 52 member 3).
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal placental riboflavin transport and sudden neonatal death associated with hyperlipidemia and hypoglycemia due to riboflavin deficiency. [provided by MGI curators]
  • synonyms:
  • Slc52a3,
  • solute carrier protein family 52, member 3,
  • 2310046K01Rik,
  • RIKEN cDNA 2310046K01 gene

Features --> Cross References

Genome

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

2 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

4 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

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0 Driver For