SFXN4 gene

sideroflexin 4

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

From NCBI Gene:

This gene encodes a member of the sideroflexin family. The encoded protein is a transmembrane protein of the inner mitochondrial membrane, and is required for mitochondrial respiratory homeostasis and erythropoiesis. Mutations in this gene are associated with mitochondriopathy and macrocytic anemia. Alternatively spliced transcript variants have been found in this gene. [provided by RefSeq, Jan 2014]

From UniProt:

Mitochondrial amino-acid transporter (By similarity). Does not act as a serine transporter: not able to mediate transport of serine into mitochondria (PubMed:30442778).

From NCBI Gene:

  • Combined oxidative phosphorylation deficiency 18

From UniProt:

Combined oxidative phosphorylation deficiency 18 (COXPD18): An autosomal recessive disorder of mitochondrial dysfunction characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis associated with decreased mitochondrial respiratory chain activity. Affected patients may also show hematologic abnormalities, mainly macrocytic anemia. [MIM:615578]

Cytogenetic Location: 10q26.11, which is the long (q) arm of chromosome 10 at position 26.11

Molecular Location: base pairs 119,140,767 to 119,165,728 on chromosome 10 (Homo sapiens Updated Annotation Release 109.20190607, GRCh38.p13) (NCBI)

Cytogenetic Location: 10q26.11, which is the long (q) arm of chromosome 10 at position 26.11
  • BCRM1
  • COXPD18
  • SLC56A4