1. Gene
  2. SLC25A32 - solute carrier family 25 member 32 Gene

SLC25A32 - solute carrier family 25 member 32 Gene

中文名称:溶质载体家族 25 成员 32

种属: Homo sapiens

同用名: MFT; GLYB; MFTC; RREI

基因 ID: 81034 | 基因类型: protein coding

关于 SLC25A32

Cytogenetic location: 8q22.3 Genomic coordinates (GRCh38): 8:103,398,638-103,415,107 (from NCBI)

This gene has 5 transcripts (splice variants), 227 orthologues, 49 paralogues and is associated with 2 phenotypes. Ubiquitous expression in appendix (RPKM 5.6), lymph node (RPKM 5.3) and 25 other tissues.

功能概要

该基因编码线粒体载体家族转运蛋白 P (I/L) W 亚家族的成员。编码的蛋白质将叶酸转运穿过线粒体内膜。已经描述了选择性剪接的转录物变体。[RefSeq 提供,2013 年 3 月]

This gene encodes a member of the P(I/L)W subfamily of mitochondrial carrier family transport proteins. The encoded protein transports folate across the inner mitochondrial membrane. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2013]

SLC25A32 基因产物(1)

mRNA Protein Name
NM_030780.5 NP_110407.2 mitochondrial folate transporter/carrier
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables FAD transmembrane transporter activity IMP
IMP: 通过突变表型推断
35727412 GOA
enables folic acid transmembrane transporter activity IGI
IGI: 通过遗传相互作用推断
15140890 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in folate import into mitochondrion IGI
IGI: 通过遗传相互作用推断
15140890 GOA
involved in folate import into mitochondrion IMP
IMP: 通过突变表型推断
29666258 GOA
involved in mitochondrial FAD transmembrane transport IMP
IMP: 通过突变表型推断
16165386 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrion IDA
IDA: 通过直接分析推断
21956163 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

SLC25A32 蛋白结构

Mito_carr

Mito_carr: Mitochondrial carrier protein (24 - 109)

Mito_carr

Mito_carr: Mitochondrial carrier protein (119 - 211)

Mito_carr

Mito_carr: Mitochondrial carrier protein (222 - 309)

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

mitochondrial folate transporter/carrier

Glycine auxotroph B, complementation of hamster

关联疾病

疾病名称 别名
Exercise Intolerance, Riboflavin-Responsive

RREI

Multiple Acyl-Coa Dehydrogenase Deficiency, Mild Type

Glutaric Aciduria Type 2, Mild Type

Mad Deficiency, Mild Type

Madd, Mild Type

Neural Tube Defects

Spina Bifida

Neural Tube Defect

NTD

Neural Tube Defects, Susceptibility To

Spinal Dysraphism

Spina Bifida, Susceptibility To

Rachischisis

Cleft Spine

Open Spine

Hydrocele Spinalis

Neural Tube Defect Nos

Sb - [Spina Bifida]

Spinal Hernia Nos

Spinal Fissure Nos

Myelomeningocele

Meningomyelocele

Multiple Acyl-Coa Dehydrogenase Deficiency

MADD

Ethylmalonic-Adipicaciduria

Ema

Glutaric Acidemia Iia

Glutaric Acidemia Iib

Ga Ii

Glutaric Acidemia Iic

Glutaric Acidemia Type 2

Glutaric Acidemia Ii

Glutaric Aciduria Ii

Electron Transfer Flavoprotein Deficiency

Glutaric Aciduria Type 2

Mad Deficiency

Glutaric Acidemia Type Ii

Glutaric Aciduria 2

Etfa Deficiency

Etfb Deficiency

Etfdh Deficiency

Multiple Acyl Coenzyme A Dehydrogenase Deficiency

Ga2

Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency

Electron Transfer Flavoprotein Dehydrogenase Deficiency

Ga 2

Glutaric Acidemia 2

Glutaric Acidemia, Type 2

Glutaric Aciduria, Type 2

Mad

Multiple Fad Dehydrogenase Deficiency

Ethylmalonic Adipic Aciduria

Glutaricaciduria Ii

Glutaric Aciduria 2a

GA2A

Gaiia

Glutaricaciduria Iia

Glutaric Aciduria 2b

GA2B

Gaiib

Glutaricaciduria Iib

Glutaric Aciduria 2c

GA2C

Gaiic

Glutaricaciduria Iic

Glutaricaciduria, Type Iia

Glutaric Acidemia Type 2a

Glutaric Acidemia Type 2c

Glutaric Aciduria Iia

Glutaric Aciduria Iib

Glutaric Aciduria Iic

Fazio-Londe Disease

Fazio-Londe Syndrome

Riboflavin Transporter Deficiency Neuronopathy

Brown-Vialetto-Van Laere Syndrome

Progressive Bulbar Palsy Of Childhood

Bulbar Palsy, Progressive, Of Childhood

Bvvls

Pontobulbar Palsy With Deafness

Progressive Bulbar Palsy With Sensorineural Deafness

Riboflavin Transporter Deficiency

FALOND

Bulbar Palsy Progressive Of Childhood

Bulbar Palsy Of Childhood, Progressive

Anencephaly

Aprosencephaly

Anencephalus

Congenital Absence Of Brain

Absence Of A Large Part Of The Brain And The Skull

Anencephalia

Anencephalic Monster

Brain Absence

Brain Agenesis

Brain Aplasia

Absent Brain

Anencephalic

Congenital Absence Of Cerebrum

Congenital Hemicrania

Incomplete Anencephaly

Progressive Bulbar Palsy

Bulbar Palsy, Progressive

Progressive Bulbar Atrophy

Bulbar Palsy

Pbp - [Progressive Bulbar Palsy]

Progressive Bulbar Paralysis

Bulbar Paralysis

Chronic Bulbar Palsy

Chronic Bulbar Paralysis

Supranuclear Bulbar Paralysis

Folate Malabsorption, Hereditary

Hereditary Folate Malabsorption

Congenital Defect Of Folate Absorption

Congenital Folate Malabsorption

Folic Acid Transport Defect

HFM

Brown-Vialetto-Van Laere Syndrome
Mitochondrial Complex I Deficiency, Nuclear Type 20

Acyl-Coa Dehydrogenase 9 Deficiency

Acad9 Deficiency

MC1DN20

Mitochondrial Complex I Deficiency Due To Acad9 Deficiency

Nuclear Type Mitochondrial Complex I Deficiency 20

Acyl-Coa Dehydrogenase Family, Member 9, Deficiency Of

Mitochondrial Complex 1 Deficiency Due To Acad9 Deficiency

Deficiency Of Acyl-Coa Dehydrogenase Family Member 9

Acyl-Coa Dehydrogenase Family, Member 9, Deficiency

Neuropathy, Hereditary Sensory, Type Ie

HSN1E

Hsn Ie

Hereditary Sensory Neuropathy Type 1e

Hereditary Sensory Neuropathy Type Ie

Hsan 1

Neuropathy, Hereditary Sensory, With Hearing Loss And Dementia

Hereditary Sensory Neuropathy Type 1

Hsn1

Hereditary Sensory And Autonomic Neuropathy Type 1

Neuropathy Hereditary Sensory And Autonomic Type 1

Neuropathy Hereditary Sensory Radicular, Autosomal Dominant

Neuropathy, Hereditary Sensory, 1e

Neuropathy Hereditary Sensory With Hearing Loss And Dementia

Neuropathy, Hereditary Sensory, Type I

Neuropathy, Sensory, Hereditary, Type Ie

Hereditary Sensory And Autonomic Neuropathy Type Ie

Hereditary Sensory Autonomic Neuropathy, Type 1

Mitochondrial Complex I Deficiency, Nuclear Type 1

Mitochondrial Complex I Deficiency

Nadh:Q(1) Oxidoreductase Deficiency

MC1DN1

Nadh-Coenzyme Q Reductase Deficiency

Isolated Mitochondrial Respiratory Chain Complex I Deficiency

Isolated Nadh-Coenzyme Q Reductase Deficiency

Isolated Nadh-Coq Reductase Deficiency

Isolated Nadh-Ubiquinone Reductase Deficiency

Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

Nuclear Type Mitochondrial Complex I Deficiency 1

Isolated Complex I Deficiency

Complex 1 Mitochondrial Respiratory Chain Deficiency

Nadh Coenzyme Q Reductase Deficiency

Complex I Mitochondrial Respiratory Chain Deficiency

Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

Nadh:Ubiquinone Oxidoreductase Deficiency

Complex I, Mitochondrial Respiratory Chain, Deficiency Of

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

直系同源

种属 基因名 来源 基因 ID
Felis catus SLC25A32 VGNC VGNC:81698
Canis familiaris SLC25A32 VGNC VGNC:46306
Bos taurus SLC25A32 VGNC VGNC:34758
Mus musculus SLC25A32 MGD MGI:1917156
Rattus norvegicus SLC25A32 RGD RGD:1565789
Macaca mulatta SLC25A32 VGNC VGNC:84116