Gene

slc25a1b

ID
ZDB-GENE-130114-1
Name
slc25a1 solute carrier family 25 member 1b
Symbol
slc25a1b Nomenclature History
Previous Names
None
Type
protein_coding_gene
Location
Chr: 10 Mapping Details/Browsers
Description
Predicted to enable citrate secondary active transmembrane transporter activity. Involved in neuromuscular junction development. Predicted to be located in mitochondrial inner membrane. Predicted to be active in mitochondrion. Human ortholog(s) of this gene implicated in 2-hydroxyglutaric aciduria; combined D-2- and L-2-hydroxyglutaric aciduria; and congenital myasthenic syndrome. Orthologous to human SLC25A1 (solute carrier family 25 member 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
1 figure from Chaouch et al., 2014
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With slc25a1b Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
combined D-2- and L-2-hydroxyglutaric aciduria Alliance Combined D-2- and L-2-hydroxyglutaric aciduria 615182
Myasthenic syndrome, congenital, 23, presynaptic 618197
Associated With slc25a1b Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR002067 Mitochondrial carrier protein
Homologous_superfamily IPR023395 Mitochondrial carrier domain superfamily
Repeat IPR018108 Mitochondrial substrate/solute carrier
Domain Details Per Protein
Protein Length Mitochondrial carrier domain superfamily Mitochondrial carrier protein Mitochondrial substrate/solute carrier
UniProtKB:A8WFQ6 406
UniProtKB:F1R4U0 317
Transcripts
Genome Browsers
No data available
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations