1. Gene
  2. MTHFD2L - methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like Gene

MTHFD2L - methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like Gene

Homo sapiens
Gene ID: 441024 | Gene type: protein coding

About MTHFD2L

Cytogenetic location: 4q13.3 Genomic coordinates (GRCh38): 4:74,114,560-74,303,099 (from NCBI)

This gene has 15 transcripts (splice variants), 197 orthologues and 3 paralogues. Low expression observed in reference dataset.

Summary

Predicted to enable methenyltetrahydrofolate cyclohydrolase activity; methylenetetrahydrofolate dehydrogenase (NAD+) activity; and methylenetetrahydrofolate dehydrogenase (NADP+) activity. Predicted to be involved in tetrahydrofolate interconversion. Predicted to be located in mitochondrial matrix. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]

MTHFD2L Products(7)

mRNA Protein Name
NM_001004346.4 NP_001004346.2 bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform 1
NM_001144978.3 NP_001138450.1 bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform 2
NM_001351310.2 NP_001338239.1 bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform 3
NM_001351311.2 NP_001338240.1 bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform 3
NM_001351314.2 NP_001338243.1 bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform 4
NM_001351329.2 NP_001338258.1 bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform 5
NM_001351331.2 NP_001338260.1 bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform 6

MTHFD2L Protein Structure

THF_DHG_CYH

THF_DHG_CYH: Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain (53 - 169)

THF_DHG_CYH_C

THF_DHG_CYH_C: Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (172 - 344)

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  • 347 a.a.
Protein Preferred Names Protein Names

bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial

MTHFD2-like

Related Diseases

Diseases Alias
Cutis Laxa, Autosomal Dominant 3

ADCL3

Autosomal Dominant Cutis Laxa 3

Cutis Laxa, Autosomal Dominant, 3

Cutis Laxa, Autosomal Dominant 1

Cutis Laxa, Autosomal Dominant

Autosomal Dominant Cutis Laxa

ADCL1

Adcl

Autosomal Dominant Cutis Laxa 1

Cutis Laxa, Autosomal Dominant, 1

Cutis Laxa, Autosomal Dominant, Type 1

Cutis Laxa, Autosomal Dominant 2

ADCL2

Autosomal Dominant Cutis Laxa 2

Cutis Laxa, Autosomal Dominant, 2

Cutis Laxa, Autosomal Dominant, Type 2

Glycine Encephalopathy

Non-Ketotic Hyperglycinemia

Nonketotic Hyperglycinemia

NKH

GCE

Hyperglycinemia, Nonketotic

Hyperglycinemia Nonketotic

Infantile Glycine Encephalopathy

Encephalopathy, Glycine

Glycine Synthase Deficiency

Nka

Neonatal Glycine Encephalopathy

Classic Glycine Encephalopathy

Neonatal Nkh

Neonatal Non-Ketotic Hyperglycinemia

Infantile Nkh

Infantile Non-Ketotic Hyperglycinemia

Non-Ketotic Hyperglycinaemia

Glycine Cleavage Deficiency

Nonketotic Hyperglycinaemia

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

Orthologs Information

Species Symbol Source ID
Mus musculus MTHFD2L MGD MGI:1915871
Macaca mulatta MTHFD2L VGNC VGNC:100249
Rattus norvegicus MTHFD2L RGD RGD:1310879
Canis familiaris MTHFD2L VGNC VGNC:51777
Felis catus MTHFD2L VGNC VGNC:107350