Mitochondrial glycine transporter

Last updated

SLC25A38
Identifiers
Aliases SLC25A38 , SIDBA2, solute carrier family 25 member 38
External IDs OMIM: 610819; MGI: 2384782; HomoloGene: 5553; GeneCards: SLC25A38; OMA:SLC25A38 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_017875
NM_001354798

NM_144793

RefSeq (protein)

NP_060345
NP_001341727

NP_659042

Location (UCSC) Chr 3: 39.38 – 39.4 Mb Chr 9: 119.94 – 119.95 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Mitochondrial glycine transporter is a protein that in humans is encoded by the SLC25A38 gene. SLC25A38 is involved in mitochondrial handling of glycine and is needed for the first step in heme synthesis. Mutations in this gene can lead to an autosomal recessive form of sideroblastic anemia. [5]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000144659 Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000032519 Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Heeney MM, Berhe S, Campagna DR, Oved JH, Kurre P, Shaw PJ, et al. (November 2021). "SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature". Human Mutation. 42 (11): 1367–1383. doi:10.1002/humu.24267. PMC   8511274 . PMID   34298585.