Biology:SLC25A51

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Solute carrier family 25 member 51, also known as SLC25A51 and MCART1, is a protein which in humans is encoded by the SLC25A51 gene. This gene encodes a mitochondrial NAD+ transporter[1] and is a member of the mitochondrial carrier family of solute carrier proteins.

Structure

The SLC25A51 gene is located on the p arm of chromosome 9 in position 13.2 and spans 24,954 base pairs.[2] The gene produces a 33.7 kDa protein composed of 297 amino acids.[3] This gene has 6 exons and encodes a multi-pass integral membrane protein localized to the mitochondrial inner membrane.[2][3]

Function

The product of this gene (MCART1) is essential for the import of NAD+ into the mitochondria.[1][4][5]

Clinical significance

Diseases associated with this gene include urea cycle disorders.[6]

See also

References

  1. ↑ 1.0 1.1 Girardi, Enrico; Agrimi, Gennaro; Goldmann, Ulrich; Fiume, Giuseppe; Lindinger, Sabrina; Sedlyarov, Vitaly; Srndic, Ismet; Gürtl, Bettina et al. (2020-12-01). "Epistasis-driven identification of SLC25A51 as a regulator of human mitochondrial NAD import" (in en). Nature Communications 11 (1): 6145. doi:10.1038/s41467-020-19871-x. ISSN 2041-1723. PMID 33262325. Bibcode: 2020NatCo..11.6145G. 
  2. ↑ 2.0 2.1 "SLC25A51 solute carrier family 25 member 51 [Homo sapiens (human) - Gene - NCBI"]. https://www.ncbi.nlm.nih.gov/gene/92014/. 
  3. ↑ 3.0 3.1 "UniProt" (in en). https://www.uniprot.org/uniprotkb/Q9H1U9/. 
  4. ↑ Kory, Nora; uit de Bos, Jelmi; van der Rijt, Sanne; Jankovic, Nevena; Güra, Miriam; Arp, Nicholas; Pena, Izabella A.; Prakash, Gyan et al. (2020-10-21). "MCART1/SLC25A51 is required for mitochondrial NAD transport". Science Advances 6 (43). doi:10.1126/sciadv.abe5310. PMID 33087354. Bibcode: 2020SciA....6.5310K. 
  5. ↑ Luongo, Timothy S.; Eller, Jared M.; Lu, Mu-Jie; Niere, Marc; Raith, Fabio; Perry, Caroline; Bornstein, Marc R.; Oliphint, Paul et al. (December 2020). "SLC25A51 is a mammalian mitochondrial NAD+ transporter" (in en). Nature 588 (7836): 174–179. doi:10.1038/s41586-020-2741-7. ISSN 1476-4687. PMID 32906142. 
  6. ↑ "DISEASES - SLC25A51". https://diseases.jensenlab.org/Entity?documents=10&type1=9606&id1=ENSP00000366945&type2=-26&id2=DOID:9267. 



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