SLC25A32 - solute carrier family 25 member 32 Gene

Also Known as MFT; GLYB; MFTC; RREI

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 81034

About 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.

Summary

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 Products (1)

mRNA	Protein	Name
NM_030780.5	NP_110407.2	mitochondrial folate transporter/carrier

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables FAD transmembrane transporter activity	IMP IMP: Inferred from mutant phenotype	35727412	GOA
enables folic acid transmembrane transporter activity	IGI IGI: Inferred from genetic interaction	15140890	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in folate import into mitochondrion	IGI IGI: Inferred from genetic interaction	15140890	GOA
involved in folate import into mitochondrion	IMP IMP: Inferred from mutant phenotype	29666258	GOA
involved in mitochondrial FAD transmembrane transport	IMP IMP: Inferred from mutant phenotype	16165386	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	21956163	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

SLC25A32 Protein Structure

Mito_carr

0
100
200
300
315 a.a.

Protein Preferred Names	Protein Names
mitochondrial folate transporter/carrier	Glycine auxotroph B, complementation of hamster

Related Diseases

Diseases	Alias
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

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13114	SLC25A32 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	SLC25A32	NCBI