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  3. SFXN4 - sideroflexin 4 Gene

SFXN4 - sideroflexin 4 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：sideroflexin 4

种属: Homo sapiens

同用名: BCRM1; COXPD18; SLC56A4

基因 ID: 119559 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 sideroflexin 家族的一个成员。编码的蛋白质是线粒体内膜的跨膜蛋白，是线粒体呼吸稳态和红细胞生成所必需的。该基因的突变与线粒体病和大红细胞性贫血有关。已在该基因中发现选择性剪接的转录物变体。[RefSeq 提供，2014 年 1 月]

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 基因产物(1)

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

SFXN4 蛋白结构

Mtc

Mtc: Tricarboxylate carrier (37 - 327)

  • 0
  • 100
  • 200
  • 300
  • 337 a.a.
蛋白主名 其他名称

sideroflexin-4

breast cancer resistance marker 1

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS12788 SFXN4 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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