SLC25A26 gene

solute carrier family 25 member 26

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene is a member of the mitochondrial carrier family which includes nuclear-encoded transporters localized on the inner mitochondrial membranes. Members of the family transport important small molecules across the mitochondrial inner membrane. This protein is involved in the transport of S-adenosylmethionine (SAM) into the mitochondria. Mutations in this gene are associated with combined oxidative phosphorylation deficiency 28. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2017]

From UniProt:

Mitochondrial solute carriers shuttle metabolites, nucleotides, and cofactors through the mitochondrial inner membrane. Specifically mediates the transport of S-adenosylmethionine (SAM) into the mitochondria.

From NCBI Gene:

  • Combined oxidative phosphorylation deficiency 28

From UniProt:

Combined oxidative phosphorylation deficiency 28 (COXPD28): An autosomal recessive mitochondrial disorder characterized by decreased activities of respiratory chain enzymes, and variable clinical manifestations. Clinical features include episodic metabolic decompensation beginning in infancy, mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death. [MIM:616794]

Cytogenetic Location: 3p14.1, which is the short (p) arm of chromosome 3 at position 14.1

Molecular Location: base pairs 66,133,610 to 66,380,021 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3p14.1, which is the short (p) arm of chromosome 3 at position 14.1
  • COXPD28
  • SAMC