Gene

Abcd3

Species
Mus musculus
Symbol
Abcd3
Name
ATP-binding cassette, sub-family D member 3
Synonyms
  • AI313901
  • AU018866
Biotype
protein coding gene
Automated Description
Predicted to enable several functions, including ATP binding activity; ATP hydrolysis activity; and protein homodimerization activity. Involved in bile acid and bile salt transport; bile acid biosynthetic process; and phytanic acid metabolic process. Located in peroxisomal membrane. Is expressed in several structures, including alimentary system; brain; cardiovascular system; genitourinary system; and sensory organ. Used to study congenital bile acid synthesis defect 5. Human ortholog(s) of this gene implicated in Zellweger syndrome and congenital bile acid synthesis defect 5. Orthologous to human ABCD3 (ATP binding cassette subfamily D member 3).
MGI Description
PHENOTYPE: Mice homozygous for a null mutation show enlarged livers, abnormal bile composition and peroxisome abnormalities. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11384
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCm39
Viewer Help
121.555M121.560M121.565M121.570M121.575M121.580M121.585M121.590M121.595M121.600M121.605M

Sequence Details

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Expression

Primary Sources
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions