InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC25A20

Summary

InnateDB Protein

IDBP-33801.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SLC25A20

Protein Name

solute carrier family 25 (carnitine/acylcarnitine translocase), member 20

Synonyms

CAC; CACT;

Species

Homo sapiens

Ensembl Protein

ENSP00000326305

InnateDB Gene

IDBG-33799 (SLC25A20)

Protein Structure

UniProt Annotation

Function

Mediates the transport of acylcarnitines of different length across the mitochondrial inner membrane from the cytosol to the mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway.

Subcellular Localization

Mitochondrion inner membrane; Multi-pass membrane protein.

Disease Associations

Carnitine-acylcarnitine translocase deficiency (CACTD) [MIM:212138]: A rare long-chain fatty acid oxidation disorder. Metabolic consequences include hypoketotic hypoglycemia under fasting conditions, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long- chain acylcarnitines. Clinical features include neurologic abnormalities, cardiomyopathy, arrhythmias, skeletal muscle damage, liver dysfunction and episodes of life-threatening coma, which eventually lead to death. Most patients become symptomatic in the neonatal period with a rapidly progressive deterioration and a high mortality rate. {ECO:0000269PubMed:12859414, ECO:0000269PubMed:15057979, ECO:0000269PubMed:15365988}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.