Solute Carrier Family 25, Member 42

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OMIM Number

610823

NCBI Gene ID

284439

Uniprot ID

Q86VD7

Length

49,037 bases

No. of Exons

8

No. of isoforms

1

Protein Name

Mitochondrial coenzyme A transporter SLC25A42

Molecular Mass

35409 Da

Amino Acid Count

318

Genomic Location

chr19:19,063,994-19,113,030

Gene Map Locus
19p13.11

Description

This gene encodes a solute carrier family 25 protein. Solute carrier family 25 proteins are localized to mitochondria and play critical roles in the transport of molecules across the inner mitochondrial membrane. The encoded protein is a mitochondrial transporter for coenzyme A (CoA) and adenosine 3',5'-diphosphate. [From RefSeq]

Molecular Genetics

The SLC25A42 gene is located on the short arm of chromosome 19 and is made up of ten exons.  The protein product encoded by the gene is made up of 418 amino acids.  Like all other members of the SLC25 family of transporters, this protein also consists of a domain architecture involving three tandem sequence repeats, with each repeat containing two transmembrane helices and a conserved PX(D/E)XX(K/R) signature motif.  The six combined transmembrane helices are oriented with three-fold pseudo-symmetry, and the substrate-binding site is in a deep groove within.  

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_178526.5:c.871A>GSaudi ArabiaNC_000019.10:g.19110790A>GLikely Pathogenic, PathogenicLikely PathogenicMetabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic RegressionNG_050576.1:g.51830A>G; NM_178526.5:c.871A>G; NP_848621.2:p.Asn291Asp864321624219191
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