MTHFD2
Sign in to saveAlso known as NMDMC, methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase
gen de la especie Homo sapiens
Gene data
MTHFD2- Name
- methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase
- Type
- protein-coding
- Position
- 74,186,172–74,218,432 (+)
- Aliases
- NMDMC
- Ensembl
- ENSG00000065911
- RefSeq RNA
- NM_001410192.1, NM_006636.4, XM_006711924.3, XM_054340222.1
- RefSeq protein
- NP_001397121.1, NP_006627.2, XP_006711987.1, XP_054196197.1
This gene encodes a nuclear-encoded mitochondrial bifunctional enzyme with methylenetetrahydrofolate dehydrogenase and methenyltetrahydrofolate cyclohydrolase activities. The enzyme functions as a homodimer and is unique in its absolute requirement for magnesium and inorganic phosphate. Formation of the enzyme-magnesium complex allows binding of NAD. Alternative splicing results in two different transcripts, one protein-coding and the other not protein-coding. This gene has a pseudogene on chromosome 7. [provided by RefSeq, Mar 2009].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase
- Symbol
- MTHFD2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 2:74,186,172-74,218,432
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 21321
- genomic start
- 74186172
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/10797
- genomic end
- 74444692
- chromosome
- human chromosome 2
- cytogenetic location
- 2p13.1
- expressed in
- tibia
Sources (4)
via Wikidata · CC0
Article · Español
Metilentetrahidrofolato deshidrogenasa / ciclohidrolasa bifuncional, mitocondrial es una enzima que en humanos está codificada por el gen MTHFD2 . Este gen codifica una enzima bifuncional mitocondrial codificada en el núcleo con actividades metilentetrahidrofolato deshidrogenasa y meteniltetrahidrofolato ciclohidrolasa. La enzima funciona como un homodímero y es única en su requerimiento absoluto de magnesio y fosfato inorgánico. La formación del complejo enzima-magnesio permite la unión de NAD. El empalme alternativo da como resultado múltiples transcripciones que codifican diferentes isoformas. Este gen tiene un pseudogén en el cromosoma 7.
Abstract from DBpedia / Wikipedia · CC BY-SA