SLC25A43: Solute Carrier Family 25 Member 43

Mitochondrial carrier protein with potential roles in cancer and metabolism

Gene Information Card

Symbol SLC25A43
Full Name Solute Carrier Family 25 Member 43
Gene Type Protein coding
Chromosomal Location Xq22.1
NCBI Gene ID 203427 ncbi.nlm.nih.gov/gene/203427
Ensembl ID ENSG00000101940
UniProt ID Q8N8S7
OMIM ID 300776
HGNC ID 26086
Aliases MGC26594

Description

SLC25A43 encodes a member of the SLC25 mitochondrial carrier family. The protein is localized to the inner mitochondrial membrane and is involved in the transport of metabolites. Expression is altered in certain cancers, suggesting a role in tumor biology.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Breast cancer Altered expression; potential tumor suppressor role Expression profiling studies (PMID: 21779511)
Prostate cancer Downregulation observed in metastatic samples Gene expression microarray data (COSMIC)

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 5.2 Low
Lymph node 3.8 Low
Breast 2.1 Low
Prostate 1.9 Low
Cell Line Expression
Cell Line nTPM Notes
MCF7 (breast cancer) 2.5 Low expression
PC3 (prostate cancer) 1.8 Low expression
HEK293 (embryonic kidney) 3.0 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G Missense <0.01% Unknown
c.100C>T Nonsense <0.01% Predicted loss of function
Mutation functional classification

Loss of Function (LOF)

Nonsense mutations may lead to truncated protein and loss of transport function.

Gain of Function (GOF)

No evidence of gain-of-function mutations.

Dominant Negative (DN)

Not described.

Gene Ontology (GO)

mitochondrion (GO:0005739) • integral component of membrane (GO:0016021)
mitochondrial phosphate transmembrane transporter activity (GO:0005315) • transport (GO:0006810)

Pathways

Transport of small molecules (Reactome: R-HSA-382551)

Protein Summary

SLC25A43 is a 298-amino acid mitochondrial carrier protein with three tandem repeat domains characteristic of the SLC25 family. It is predicted to transport solutes across the inner mitochondrial membrane, though its specific substrate remains unknown.

Related Products

Product name Cat.No. Species Gene ID
SLC25A43 Knockout HEK293 Cell Line EDJ-KQ5532 Human 203427 Details Get a Quote
SLC25A43 Knockout A-549 Cell Line EDJ-KQ28781 Human 203427 Details Get a Quote
SLC25A43 Knockout HCT 116 Cell Line EDJ-KQ28782 Human 203427 Details Get a Quote
SLC25A43 Knockout HeLa Cell Line EDJ-KQ28783 Human 203427 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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