Aminomethyltransferase

Alternative Names

  • AMT
  • Glycine Cleavage System T Protein
  • GCST

Associated Diseases

Autism
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OMIM Number

238310

NCBI Gene ID

275

Uniprot ID

P48728

Length

5,696 bases

No. of Exons

9

No. of isoforms

4

Protein Name

Aminomethyltransferase, mitochondrial

Molecular Mass

43946 Da

Amino Acid Count

403

Genomic Location

chr3:49,416,778-49,422,473

Gene Map Locus
3p21.31

Description

This gene encodes one of four critical components of the glycine cleavage system. Mutations in this gene have been associated with glycine encephalopathy. Multiple transcript variants encoding different isoforms have been found for this gene. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000481.4:c.922A>TSaudi ArabiaNC_000003.12:g.49417929T>ALikely PathogenicAutismNG_015986.1:g.9750A>T; NM_000481.4:c.922A>T; NP_000472.2:p.Ile308Phe
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