Terminology Service for NFDI4Health

MAML3 wt Allele

Go to external page http://purl.obolibrary.org/obo/NCIT_C117095


Human MAML3 wild-type allele is located in the vicinity of 4q28 and is approximately 438 kb in length. This allele, which encodes mastermind-like protein 3, is involved in both Notch signaling and transcriptional regulation. [ ]

Term info

Label

MAML3 wt Allele

Synonyms
  • CAG Repeat Containing (Glia-Derived Nexin I Alpha) Gene
  • CAG Repeat Domain Gene
  • CAGH3
  • ERDA3
  • GDN
  • KIAA1816
  • MAM-2
  • MAM2
  • MAML3 wt Allele
  • Mastermind (Drosophila)-Like 3 Gene
  • Mastermind-Like 3 (Drosophila) wt Allele
  • TNRC3
  • Trinucleotide Repeat Containing 3 Gene
DesignNote

A chromosomal aberration t(2;4)(q35;q31.1) has been identified that results in the fusion of the PAX3 gene with the MAML3 gene in association with biphenotypic sinonasal sarcoma. (Nature Genetics. 2014; 46: 666-668. doi: 10.1038/ng.2989.)

OMIM Number

608991

Preferred Name

MAML3 wt Allele

Semantic Type

Gene or Genome

UMLS CUI

C3890209

code

C117095