SHMT2 wt Allele

Preferred Label : SHMT2 wt Allele;

NCIt synonyms : GLYA; Glycine Auxotroph A, Human Complement for Hamster Gene; HEL-S-51e; Serine Hydroxymethylase Gene; Threonine Aldolase Gene; GLY A ; Serine Aldolase Gene; NEDCASB; SHMT; Serine Hydroxymethyltransferase 2 (Mitochondrial) Gene; mSHMT; Serine Hydroxymethyltransferase 2 wt Allele;

NCIt definition : Human SHMT2 wild-type allele is located in the vicinity of 12q13.3 and is approximately 5 kb in length. This allele, which encodes serine hydroxymethyltransferase, mitochondrial protein, plays a role in the metabolism of serine, tetrahydrofolate, glycine and thymidylate. Mutations in the gene are associated with neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities.;

GenBank Accession Number : AK223555;

Details

Origin ID

C215059;

OMIM relation
- Serine hydroxymethyltransferase, mitochondrial [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 12q13.3 [NCIt concept]
gene_is_element_in_pathway
- Glycine, Serine and Threonine Metabolism Pathway [NCIt concept]
- Glyoxylate and Dicarboxylate Metabolism Pathway [NCIt concept]
- One Carbon Pool by Folate Pathway [NCIt concept]
gene_plays_role_in_process
- Amino Acid Biosynthesis [NCIt concept]
- Folic Acid Metabolic Process [NCIt concept]
- Methylation [NCIt concept]
- Nucleotide Biosynthesis Process [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients