SFXN4 - sideroflexin 4 Gene

Also Known as BCRM1; COXPD18; SLC56A4

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 119559

About SFXN4

Cytogenetic location: 10q26.11 Genomic coordinates (GRCh38): 10:119,140,767-119,165,714 (from NCBI)

This gene has 8 transcripts (splice variants), 168 orthologues, 4 paralogues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 11.3), adrenal (RPKM 10.8) and 25 other tissues.

Summary

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]

SFXN4 Products (1)

mRNA Protein Name
NM_213649.2 NP_998814.1 sideroflexin-4

Gene Ontology

  • Cellular Component
Cellular Component GO Annotation Evidence References Source
located in mitochondrion IDA
IDA: Inferred from direct assay
30442778 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SFXN4 Protein Structure

Mtc

Mtc: Tricarboxylate carrier (37 - 327)

  • 0
  • 100
  • 200
  • 300
  • 337 a.a.
Protein Preferred Names Protein Names

sideroflexin-4

  • breast cancer resistance marker 1

Related Diseases

Diseases Alias
Combined Oxidative Phosphorylation Deficiency 18

  • Growth And Developmental Delay-Hypotonia-Vision Impairment-Lactic Acidosis Syndrome

  • COXPD18

  • Combined Oxidative Phosphorylation Deficiency, Type 18
Macrocytic Anemia

  • Anemia Macrocytic

  • Anemia, Macrocytic

  • Macrocytic Anaemia
Triosephosphate Isomerase Deficiency

  • TPID

  • Triose Phosphate-Isomerase Deficiency

  • Hemolytic Anemia Due To Triosephosphate Isomerase Deficiency

  • Tpi Deficiency

  • Triose Phosphate Isomerase Deficiency

  • Deficiency Of Phosphotriose Isomerase

  • Hereditary Nonspherocytic Hemolytic Anemia Due To Triosephosphate Isomerase Deficiency
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects

  • Cornelia De Lange Syndrome 3

  • CDLS3

  • Cornelia De Lange Syndrome, Type 3
Sengers Syndrome

  • Mitochondrial Dna Depletion Syndrome 10

  • Cardiomyopathy And Cataract

  • Cataract And Cardiomyopathy

  • MTDPS10

  • Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome

  • Cardiomyopathic Mitochondrial Dna Depletion Syndrome 10

  • Senger Syndrome
Atransferrinemia

  • Familial Hypotransferrinemia

  • Congenital Atransferrinemia

  • Hypotransferrinemia, Familial

  • Congenital Hypotransferrinemia

  • ATRAF
Lactic Acidosis

  • Acidosis, Lactic

  • Acidosis Lactic
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay

  • SIFD

  • Congenital Sideroblastic Anemia-B-Cell Immunodeficiency-Periodic Fever-Developmental Delay Syndrome

  • Sifd Syndrome
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS12788 SFXN4 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus SFXN4 MGD MGI:2137680
Rattus norvegicus SFXN4 RGD RGD:1306088
Bos taurus SFXN4 VGNC VGNC:34533
Macaca mulatta SFXN4 VGNC VGNC:77246
Felis catus SFXN4 VGNC VGNC:65072
Canis familiaris SFXN4 VGNC VGNC:53011
Others SFXN4 NCBI