Mitochondrial glycine transporter

SLC25A38
Identifiers
Aliases	SLC25A38, SIDBA2, solute carrier family 25 member 38
External IDs	OMIM: 610819; MGI: 2384782; HomoloGene: 5553; GeneCards: SLC25A38; OMA:SLC25A38 - orthologs
Gene location (Human)
Chr.	Chromosome 3 (human)
End	39,397,351 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	119,953,570 bp
RNA expression pattern
	Top expressed in
	body of pancreas; ; right lobe of thyroid gland; ; left lobe of thyroid gland; ; right lobe of liver; ; rectum; ; right uterine tube; ; right adrenal cortex; ; mucosa of transverse colon; ; left adrenal gland; ; left ovary;
	Top expressed in
	fetal liver hematopoietic progenitor cell; ; right kidney; ; tibiofemoral joint; ; granulocyte; ; yolk sac; ; zygote; ; superior ganglion of glossopharyngeal nerve; ; proximal tubule; ; secondary oocyte; ; muscle of thigh;
	More reference expression data
	n/a
Gene ontology
Molecular function	glycine transmembrane transporter activity; transmembrane transporter activity;
Cellular component	membrane; mitochondrion; mitochondrial inner membrane; integral component of membrane;
Biological process	heme biosynthetic process; erythrocyte differentiation; mitochondrial transport; glycine import into mitochondrion;
	Sources:Amigo / QuickGO
Orthologs
	54977
	208638
	ENSG00000144659
	ENSMUSG00000032519
	Q96DW6
	Q91XD8
	NM_017875; NM_001354798
	NM_144793
	NP_060345; NP_001341727
	NP_659042
	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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000144659 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000032519 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000144659 – Ensembl, May 2017

[refGRCm38Ensembl-2] 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.

[Heeney_2021-5] 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.

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