• Gene id: 160428

Gene Summary

• Gene Symbol: ALDH1L2   Gene   UCSC   Ensembl
• Aliases: mtFDH
• Gene name: aldehyde dehydrogenase 1 family member L2
• Alternate names: mitochondrial 10-formyltetrahydrofolate dehydrogenase, 10-formyltetrahydrofolate dehydrogenase ALDH1L2, aldehyde dehydrogenase family 1 member L2, mitochondrial, mitochondrial 10-FTHFDH, probable 10-formyltetrahydrofolate dehydrogenase ALDH1L2,
• Gene location: 12q23.3 (105084608: 105019783)     Exons: 27     NC_000012.12
• Gene summary(Entrez): This gene encodes a member of both the aldehyde dehydrogenase superfamily and the formyl transferase superfamily. This member is the mitochondrial form of 10-formyltetrahydrofolate dehydrogenase (FDH), which converts 10-formyltetrahydrofolate to tetrahydr

Protein Summary

• Protein general information: Q3SY69  
  • Name: Mitochondrial 10 formyltetrahydrofolate dehydrogenase (Mitochondrial 10 FTHFDH) (mtFDH) (EC 1.5.1.6) (Aldehyde dehydrogenase family 1 member L2)
  • Length: 923  
  • Mass: 101746
  • Tissue specificity: Highly expressed in pancreas, heart, brain and skeletal muscle. {ECO
• Sequence:

  MLRRGSQALRRFSTGRVYFKNKLKLALIGQSLFGQEVYSHLRKEGHRVVGVFTVPDKDGKADPLALAAEKDGTPV
  FKLPKWRVKGKTIKEVAEAYRSVGAELNVLPFCTQFIPMDIIDSPKHGSIIYHPSILPRHRGASAINWTLIMGDK
  KAGFSVFWADDGLDTGPILLQRSCDVEPNDTVDALYNRFLFPEGIKAMVEAVQLIADGKAPRIPQPEEGATYEGI
  QKKENAEISWDQSAEVLHNWIRGHDKVPGAWTEINGQMVTFYGSTLLNSSVPPGEPLEIKGAKKPGLVTKNGLVL
  FGNDGKALTVRNLQFEDGKMIPASQYFSTGETSVVELTAEEVKVAETIKVIWAGILSNVPIIEDSTDFFKSGASS
  MDVARLVEEIRQKCGGLQLQNEDVYMATKFEGFIQKVVRKLRGEDQEVELVVDYISKEVNEIMVKMPYQCFINGQ
  FTDADDGKTYDTINPTDGSTICKVSYASLADVDKAVAAAKDAFENGEWGRMNARERGRLMYRLADLLEENQEELA
  TIEALDSGAVYTLALKTHIGMSVQTFRYFAGWCDKIQGSTIPINQARPNRNLTFTKKEPLGVCAIIIPWNYPLMM
  LAWKSAACLAAGNTLVLKPAQVTPLTALKFAELSVKAGFPKGVINIIPGSGGIAGQRLSEHPDIRKLGFTGSTPI
  GKQIMKSCAVSNLKKVSLELGGKSPLIIFNDCELDKAVRMGMGAVFFNKGENCIAAGRLFVEESIHDEFVTRVVE
  EIKKMKIGDPLDRSTDHGPQNHKAHLEKLLQYCETGVKEGATLVYGGRQVQRPGFFMEPTVFTDVEDYMYLAKEE
  SFGPIMVISKFQNGDIDGVLQRANSTEYGLASGVFTRDINKAMYVSEKLEAGTVFINTYNKTDVAAPFGGVKQSG
  FGKDLGEEALNEYLKTKTVTLEY

• Structural information:
  • Protein Domains: (339..41-)
    (/note="Carrier-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00258"-)
  • Interpro: IPR011407  IPR036736  IPR016161  IPR016163  IPR016160   IPR029510  IPR016162  IPR015590  IPR005793  IPR037022  IPR002376  IPR036477  IPR011034  IPR001555  IPR009081  IPR006162  
  • Prosite: PS00070 PS00687 PS50075 PS00373 PS00012
  • STRING: ENSP00000258494
• Other Databases: GeneCards:  ALDH1L2  Malacards:  ALDH1L2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016155	formyltetrahydrofolate dehydrogenase activity	IBA	molecular function
GO:0004029	aldehyde dehydrogenase (NAD+) activity	IBA	molecular function
GO:0006730	one-carbon metabolic process	IEA	biological process
GO:0009058	biosynthetic process	IEA	biological process
GO:0016155	formyltetrahydrofolate dehydrogenase activity	IEA	molecular function
GO:0016742	hydroxymethyl-, formyl- and related transferase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0009258	10-formyltetrahydrofolate catabolic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016620	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006730	one-carbon metabolic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0016155	formyltetrahydrofolate dehydrogenase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0046655	folic acid metabolic process	TAS	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa00670	One carbon pool by folate

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq