solute carrier family 25 member 12

Summary
Gene Symbol
  • SLC25A12
Organism
Homo sapiens (human)
NCBI Gene
8604
PubChem
8604
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Calcium
  • Disease variant
  • Metal-binding
  • Mitochondrion inner membrane
  • Reference proteome
  • Repeat
  • Transmembrane helix
  • Transport
Proteins
Displaying 1 entry
UniProt Protein Name
O75746
  • Araceli hiperlarga
  • Mitochondrial aspartate glutamate carrier 1
  • Solute carrier family 25 member 12
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
Mitochondrial carrier protein, calcium-binding
Functional Category
  • E: Amino acid transport and metabolism
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying all 9 entries
DO ID Disease Name Source
DOID:0050432 Asperger syndrome
DOID:0050696 fetal alcohol spectrum disorder
DOID:0060041 autism spectrum disorder
DOID:0070341 neonatal-onset type II citrullinemia
DOID:0080349 developmental and epileptic encephalopathy 39
DOID:12849 autistic disorder
DOID:1852 intrahepatic cholestasis
DOID:4137 common bile duct disease
DOID:9273 citrullinemia

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024