Entry - *616150 - SOLUTE CARRIER FAMILY 25, MEMBER 48; SLC25A48 - OMIM

 
 
* 616150

SOLUTE CARRIER FAMILY 25, MEMBER 48; SLC25A48


HGNC Approved Gene Symbol: SLC25A48

Cytogenetic location: 5q31.1     Genomic coordinates (GRCh38): 5:135,579,172-135,888,637 (from NCBI)


TEXT

▼ Description

SLC25 is a large 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; 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. Based on sequence similarity with other SLC25 family members, SLC25A48 was predicted to be a mitochondrial amino acid transporter (review by Palmieri, 2013).


▼ Mapping

The SLC25A48 gene maps to chromosome 5q31.1 (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 : 12/29/2014
Edit History:
alopez : 12/30/2014
mcolton : 12/29/2014

* 616150

SOLUTE CARRIER FAMILY 25, MEMBER 48; SLC25A48


HGNC Approved Gene Symbol: SLC25A48

Cytogenetic location: 5q31.1     Genomic coordinates (GRCh38): 5:135,579,172-135,888,637 (from NCBI)


TEXT

Description

SLC25 is a large 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; 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. Based on sequence similarity with other SLC25 family members, SLC25A48 was predicted to be a mitochondrial amino acid transporter (review by Palmieri, 2013).


Mapping

The SLC25A48 gene maps to chromosome 5q31.1 (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 : 12/29/2014

Edit History:
alopez : 12/30/2014
mcolton : 12/29/2014



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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: June 7, 2024