Entry - *616153 - SOLUTE CARRIER FAMILY 25, MEMBER 52; SLC25A52 - OMIM

 
 
* 616153

SOLUTE CARRIER FAMILY 25, MEMBER 52; SLC25A52


Alternative titles; symbols

MITOCHONDRIAL CARRIER TRIPLE REPEAT 2; MCART2


HGNC Approved Gene Symbol: SLC25A52

Cytogenetic location: 18q12.1     Genomic coordinates (GRCh38): 18:31,759,584-31,760,880 (from NCBI)


TEXT

▼ Description

SLC25A52 is a member of the large SLC25 family of transporters that localize predominantly to the inner mitochondrial membrane. Members of this family have 3 tandem repeats of an approximately 100-amino acid domain, each repeat of which has 2 membrane-spanning alpha helices and a signature sequence motif, and the N and C termini of the transporter face the cytosol. The 6 transmembrane domains of SLC25 family members line a funnel-shaped cavity that alternately opens to the cytosol or mitochondrial matrix in a ligand- and conformation-dependent manner (review by Palmieri, 2013).


▼ Mapping

The SLC25A52 gene maps to chromosome 18q12.1 (Palmieri, 2013).


▼ REFERENCES

  1. Palmieri, F. The mitochondrial transporter family SLC25: identification, properties and physiopathology. Molec. Aspects Med. 34: 465-484, 2013. [PubMed: 23266187, related citations] [Full Text]


Creation Date:
Patricia A. Hartz : 12/30/2014
Edit History:
alopez : 12/30/2014
mcolton : 12/30/2014
mcolton : 12/30/2014

* 616153

SOLUTE CARRIER FAMILY 25, MEMBER 52; SLC25A52


Alternative titles; symbols

MITOCHONDRIAL CARRIER TRIPLE REPEAT 2; MCART2


HGNC Approved Gene Symbol: SLC25A52

Cytogenetic location: 18q12.1     Genomic coordinates (GRCh38): 18:31,759,584-31,760,880 (from NCBI)


TEXT

Description

SLC25A52 is a member of the large SLC25 family of transporters that localize predominantly to the inner mitochondrial membrane. Members of this family have 3 tandem repeats of an approximately 100-amino acid domain, each repeat of which has 2 membrane-spanning alpha helices and a signature sequence motif, and the N and C termini of the transporter face the cytosol. The 6 transmembrane domains of SLC25 family members line a funnel-shaped cavity that alternately opens to the cytosol or mitochondrial matrix in a ligand- and conformation-dependent manner (review by Palmieri, 2013).


Mapping

The SLC25A52 gene maps to chromosome 18q12.1 (Palmieri, 2013).


REFERENCES

  1. Palmieri, F. The mitochondrial transporter family SLC25: identification, properties and physiopathology. Molec. Aspects Med. 34: 465-484, 2013. [PubMed: 23266187] [Full Text: https://doi.org/10.1016/j.mam.2012.05.005]


Creation Date:
Patricia A. Hartz : 12/30/2014

Edit History:
alopez : 12/30/2014
mcolton : 12/30/2014
mcolton : 12/30/2014



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: May 30, 2024