Entity Details

Primary name S2538_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96DW6
EntryNameS2538_HUMAN
FullNameMitochondrial glycine transporter
TaxID9606
Evidenceevidence at transcript level
Length304
SequenceStatuscomplete
DateCreated2007-06-26
DateModified2021-06-02

Ontological Relatives

GenesSLC25A38

GO terms

Show/Hide Table
GOName
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0006783 heme biosynthetic process
GO:0015187 glycine transmembrane transporter activity
GO:0016021 integral component of membrane
GO:0030218 erythrocyte differentiation
GO:1904983 glycine import into mitochondrion

Subcellular Location

Show/Hide Table
Subcellular Location
Mitochondrion inner membrane

Domains

Show/Hide Table
DomainNameCategoryType
IPR018108 Mitochondrial substrate/solute carrierRepeatRepeat
IPR023395 Mitochondrial carrier domain superfamilyFamilyHomologous superfamily
IPR030847 Mitochondrial glycine transporter Hem25/SLC25A38FamilyFamily

Diseases

Show/Hide Table
Disease IDSourceNameDescription
205950 OMIMAnemia, sideroblastic, 2, pyridoxine-refractory (SIDBA2)A form of sideroblastic anemia not responsive to pyridoxine. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. The disease is caused by variants affecting the gene represented in this entry.

Interactions

7 interactions