SFXN4 - sideroflexin 4 Gene

Homo sapiens

Also known as BCRM1; COXPD18; SLC56A4

Gene ID: 119559 | Gene type: protein coding

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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12788	SFXN4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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