2. Gene
  3. SLC25A19 - solute carrier family 25 member 19 Gene

SLC25A19 - solute carrier family 25 member 19 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 19

种属: Homo sapiens

同用名: DNC; TPC; MUP1; MCPHA; THMD3; THMD4

基因 ID: 60386 | 基因类型: protein coding

关于 SLC25A19

Cytogenetic location: 17q25.1 Genomic coordinates (GRCh38): 17:75,272,992-75,289,433 (from NCBI)

This gene has 15 transcripts (splice variants), 201 orthologues, 49 paralogues and is associated with 5 phenotypes. Broad expression in testis (RPKM 8.3), lymph node (RPKM 4.5) and 24 other tissues.

功能概要

该基因编码的线粒体蛋白是溶质载体家族的一员。尽管这种蛋白质最初被认为是参与脱氧核苷酸摄取到线粒体基质中的线粒体脱氧核苷酸载体，但进一步的研究表明，这种蛋白质反而起到线粒体焦磷酸硫胺素载体的作用，将焦磷酸硫胺素转运到线粒体中。该基因的突变会导致小头畸形，Amish 类型，这是一种代谢性疾病，会导致严重的先天性小头畸形、严重的 2-酮戊二酸尿症，并在第一年内死亡。已为该基因鉴定出编码相同蛋白质的多个选择性剪接变体。[RefSeq 提供，2008 年 7 月]

This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was initially thought to be the mitochondrial deoxynucleotide carrier involved in the uptake of deoxynucleotides into the matrix of the mitochondria, further studies have demonstrated that this protein instead functions as the mitochondrial thiamine pyrophosphate carrier, which transports thiamine pyrophosphates into mitochondria. Mutations in this gene cause microcephaly, Amish type, a Metabolic Disease that results in severe congenital microcephaly, severe 2-ketoglutaric aciduria, and death within the first year. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]

SLC25A19 基因产物(3)

mRNA Protein Name
NM_001126121.2 NP_001119593.1 mitochondrial thiamine pyrophosphate carrier
NM_001126122.2 NP_001119594.1 mitochondrial thiamine pyrophosphate carrier
NM_021734.5 NP_068380.3 mitochondrial thiamine pyrophosphate carrier

SLC25A19 蛋白结构

Mito_carr

Mito_carr: Mitochondrial carrier protein (16 - 108)

Mito_carr

Mito_carr: Mitochondrial carrier protein (117 - 204)

Mito_carr

Mito_carr: Mitochondrial carrier protein (213 - 310)

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

mitochondrial thiamine pyrophosphate carrier

Deoxynucleotide carrier

关联疾病

疾病名称 别名
Microcephaly, Amish Type

Amish Lethal Microcephaly

MCPHA

Amish Microcephaly

Thiamine Metabolism Dysfunction Syndrome 3

Thmd3
Thiamine Metabolism Dysfunction Syndrome 4

Bilateral Striatal Degeneration And Progressive Polyneuropathy

THMD4

Striatal Necrosis, Bilateral, And Progressive Polyneuropathy

Progressive Polyneuropathy With Bilateral Striatal Necrosis

Thiamine Metabolism Dysfunction Syndrome 4, Bilateral Striatal Degeneration And Progressive Polyneuropathy Type

Striatal Necrosis, Bilateral And Progressive Polyneuropathy
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Dry Beriberi
Mitochondrial Complex I Deficiency, Nuclear Type 16

MC1DN16

Nuclear Type Mitochondrial Complex I Deficiency 16

Mitochondrial Complex 1 Deficiency, Nuclear Type 16
Polyneuropathy

Polyneuropathies
Wet Beriberi
Thiamine Deficiency Disease
Beriberi

Thiamine Deficiency

Vitamin B1 Deficiency

Aneurin Deficiency

Thiamine Vitamin Deficiency

Beriberi Nos

Beriberi Due To Vitamin B1 Deficiency

Beriberi Due To Thiamine Vitamin Deficiency

Kakkè
Wernicke Encephalopathy

Wernicke'S Encephalopathy

Wernicke'S Disease

Encephalopathy, Wernicke'S

Wernicke-Korsakoff Syndrome

Encephalopathy Due To Vitamin B1 Deficiency

Wernicke Disease

Wernicke Syndrome
Thiamine Metabolism Dysfunction Syndrome 2

Biotin-Responsive Basal Ganglia Disease

Basal Ganglia Disease, Biotin-Responsive

THMD2

Bbgd

Btbgd

Encephalopathy, Thiamine-Responsive

Thiamine Metabolism Dysfunction Syndrome 2, Biotin- Or Thiamine-Responsive Type

Thiamine-Responsive Encephalopathy
Wernicke-Korsakoff Syndrome

Korsakoff Syndrome

Transketolase Defect

Korsakoff'S Syndrome

Alcohol-Induced Encephalopathy

Korsakoff'S Psychosis

Korsakov Psychosis

Korsakov'S Psychosis

Alcohol Induced Encephalopathy

Korsakoff Disease

Korsakoff Psychosis
Chronic Polyneuropathy
Myopathy

Muscular Diseases

Myopathies
Leigh Syndrome

Leigh Disease

Infantile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

LS

Sne

Leigh'S Disease

Leigh Syndrome Due To Mitochondrial Complex I Deficiency

Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

Subacute Necrotizing Encephalomyelopathy

Necrotizing Encephalopathy Infantile Subacute Of Leigh

Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

Infantile Necrotizing Encephalomyelopathy

Juvenile Subacute Necrotizing Encephalomyelopathy

Leigh'S Necrotizing Encephalopathy

Subacute Necrotizing Encephalopathy

Juvenile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

Leigh Syndrome Due To Mitochondrial Complex V Deficiency

Encephalopathy, Subacute Necrotizing, Infantile

Encephalopathy, Subacute Necrotizing, Juvenile

Maternally Inherited Leigh Syndrome

Subacute Necrotising Encephalomyelopathy

Subacute Necrotising Encephalopathy
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
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-RS13099 SLC25A19 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta SLC25A19 VGNC VGNC:77474
Canis familiaris SLC25A19 VGNC VGNC:46298
Mus musculus SLC25A19 MGD MGI:1914533
Bos taurus SLC25A19 VGNC VGNC:34747
Felis catus SLC25A19 VGNC VGNC:65261
Rattus norvegicus SLC25A19 RGD RGD:1359554
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