2. Gene
  3. SLC25A38 - solute carrier family 25 member 38 Gene

SLC25A38 - solute carrier family 25 member 38 Gene

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

中文名称：溶质载体家族 25 成员 38

种属: Homo sapiens

同用名: SIDBA2

基因 ID: 54977 | 基因类型: protein coding

关于 SLC25A38

Cytogenetic location: 3p22.1 Genomic coordinates (GRCh38): 3:39,383,370-39,397,351 (from NCBI)

This gene has 9 transcripts (splice variants), 280 orthologues, 49 paralogues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 14.1), bone marrow (RPKM 11.1) and 25 other tissues.

功能概要

该基因是线粒体载体家族的成员。编码的蛋白质在红细胞生成过程中是必需的，对血红素的生物合成很重要。该基因的突变是常染色体先天性铁粒幼细胞性贫血 (anemia, sideroblastic, 2, pyridoxine-refractory) 的原因。在 1 号染色体上发现了一个相关的假基因。[RefSeq 提供，2017 年 8 月]

This gene is a member of the mitochondrial carrier family. The encoded protein is required during erythropoiesis and is important for the biosynthesis of heme. Mutations in this gene are the cause of autosomal congenital sideroblastic anemia (anemia, sideroblastic, 2, pyridoxine-refractory). A related pseudogene is found on chromosome 1. [provided by RefSeq, Aug 2017]

SLC25A38 基因产物(2)

mRNA Protein Name
NM_001354798.2 NP_001341727.1 mitochondrial glycine transporter isoform 2
NM_017875.4 NP_060345.2 mitochondrial glycine transporter isoform 1

SLC25A38 蛋白结构

Mito_carr

Mito_carr: Mitochondrial carrier protein (26 - 116)

Mito_carr

Mito_carr: Mitochondrial carrier protein (121 - 207)

Mito_carr

Mito_carr: Mitochondrial carrier protein (218 - 300)

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

mitochondrial glycine transporter

appoptosin

关联疾病

疾病名称 别名
Anemia, Sideroblastic, 2, Pyridoxine-Refractory

Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive

SIDBA2

Anemia, Sideroblastic, Type 2, Pyridoxine-Refractory
Autosomal Recessive Sideroblastic Anemia

Arsa

Congenital Sideroblastic Anemia

Hereditary Sideroblastic Anemia
Sideroblastic Anemia

Anemia Sideroblastic

Anemia, Sideroblastic

Anemia, Hypochromic With Iron Loading
Anemia, Sideroblastic, 1

Xlsa

X-Linked Sideroblastic Anemia

Hypochromic Anemia

Anh1

Hereditary Iron-Loading Anemia

Anemia, Sideroblastic, X-Linked

Anemia, Hereditary Sideroblastic

Erythroid 5-Aminolevulinate Synthase Deficiency

Hereditary Sideroblastic Anemia

SIDBA1

Anemia, Hypochromic

Sideroblastic Anemia 1

Anemia Hypochromic

X Chromosome-Linked Sideroblastic Anemia

Sideroblastic Anaemia 1

X-Linked Sideroblastic Anaemia

Anemia Hereditary Sideroblastic

Anemia Sex-Linked Hypochromic Sideroblastic

Congenital Sideroblastic Anemia

Sideroblastic Anemia X-Linked

Anemia, Sex-Linked Hypochromic Sideroblastic

Congenital Sideroblastic Anaemia

X-Linked Pyridoxine-Responsive Sideroblastic Anemia

Anemia Congenital Sideroblastic

Anemia, Sideroblastic, Type 1

Sex-Linked Hypochromic Sideroblastic Anaemia

Autosomal Recessive Sideroblastic Anaemia

Familial Sex Linked Hypochromic Anaemia
Pearson Marrow-Pancreas Syndrome

Pearson Syndrome

Sideroblastic Anemia With Marrow Cell Vacuolization And Exocrine Pancreatic Dysfunction

Pearson'S Marrow/Pancreas Syndrome

Pearson'S Syndrome

Pearson'S Marrow-Pancreas Syndrome
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
Anemia, Sideroblastic, And Spinocerebellar Ataxia

X-Linked Sideroblastic Anemia With Ataxia

ASAT

X-Linked Sideroblastic Anemia And Ataxia

X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia

Anemia, Sideroblastic, With Ataxia

Anemia Sideroblastic And Spinocerebellar Ataxia

Pagon Bird Detter Syndrome

Pagon-Bird-Detter Syndrome

Xlsa-A

X-Linked Sideroblastic Anaemia And Ataxia

X-Linked Sideroblastic Anaemia With Ataxia

Sideroblastic Anemia With Spinocerebellar Ataxia

Xlsa/A

Anemia, Sideroblastic, Spinocerebellar Ataxia

Sideroblastic Anemia And Ataxia

Anemia Sideroblastic, And Spinocerebellar Ataxia
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2

MLASA2

Myopathy With Lactic Acidosis And Sideroblastic Anemia 2

Myopathy, Lactic Acidosis, And Sideroblastic Anemia, Type 2
Protoporphyria, Erythropoietic, 1

Erythropoietic Protoporphyria

Epp

Ferrochelatase Deficiency

Protoporphyria, Erythropoietic

Erythrohepatic Protoporphyria

Heme Synthetase Deficiency

Autosomal Erythropoietic Protoporphyria

EPP1

Protoporphyria

Protoporphyria Erythropoietic
Hypochromic Microcytic Anemia

Anemia, Hypochromic Microcytic

Microcytic Hypochromic Anemia
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome

Fowler Syndrome

Encephaloclastic Proliferative Vasculopathy

Hydrocephaly/Hydranencephaly Due To Cerebral Vasculopathy

PVHH

Epv

Cerebral Proliferative Glomeruloid Vasculopathy

Hydranencephaly, Fowler Type

Proliferative Vasculopathy And Hydranencephaly/Hydrocephaly

Fowler'S Syndrome

Fowler Christmas Chapple Syndrome

Fowler Vasculopathy

Polycystic Ovaries Urethral Sphincter Dysfunction

Voiding Dysfunction And Polycystic Ovaries

Fowler Vasculopaty

Hydranencephaly Fowler Type

Pgv

Polycystic Ovaries-Urethral Sphincter Dysfunction Syndrome
Acute Porphyria

Porphyrias, Hepatic

Hepatic Porphyria

Porphyria Hepatic

Acute Intermittent Porphyria
Folate Malabsorption, Hereditary

Hereditary Folate Malabsorption

Congenital Defect Of Folate Absorption

Congenital Folate Malabsorption

Folic Acid Transport Defect

HFM
Erythrocytosis, Familial, 7

ECYT7

Erythrocytosis 7

Familial Erythrocytosis 7

Erythrocytosis, Alpha-Globin Type

Polycythemia, Alpha-Globin Type

Alpha-Globin Type Erythrocytosis

Alpha-Globin Type Polycythemia
Marinesco-Sjogren Syndrome

Marinesco-Sjögren Syndrome

MSS

Marinesco-Garland Syndrome

Garland-Moorhouse Syndrome

Hereditary Oligophrenic Cerebello-Lental Degeneration

Oligophrenic Cerebellolenticular Degeneration

Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism

Marinesco-Sjogren Syndrome-Myopathy

Marinesco-Sjogren-Garland Syndrome

Marinesco-Sjoegren Syndrome
Deficiency Anemia

Anemia

Deficiency Anemias

Anaemia
Aplastic Anemia

Aplastic Anemia, Susceptibility To

Anemia Aplastic

Idiopathic Aplastic Anemia

Secondary Aplastic Anemia

Idiopathic Bone Marrow Failure

Aplastic Anemia Idiopathic

AA

Anemia, Aplastic

Aplastic Anemia, Idiopathic

Erythroid Aplasia

Aa - [Aplastic Anaemia]

Haematopoietic Aplasia

Aleukia Haemorrhagica

Anaemia Due To Decreased Red Cell Production

Aplasia Bone Marrow

Aplastic Bone Marrow

Hypoplastic Anaemia Nos

Myeloid Bone Marrow Aplasia

Pancytopenia

Panhaematopenia

Hypoproliferative Anaemia

Medullary Hypoplasia

Red Blood Cells Hypoplastic Anaemia

Panmyelophthisis

Panhemocytopenia

Refractive Hypoproliferative Anaemia

Toxic Anaemia

Toxic Aplastic Anaemia

Aplastic Anaemia Due To Toxic Cause

Idiopathic Aplastic Anaemia Nos
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-RS13120 SLC25A38 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus SLC25A38 RGD RGD:1311914
Canis familiaris SLC25A38 VGNC VGNC:46311
Mus musculus SLC25A38 MGD MGI:2384782
Felis catus SLC25A38 VGNC VGNC:65273
Macaca mulatta SLC25A38 VGNC VGNC:77571
Bos taurus SLC25A38 VGNC VGNC:34763
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