Family

Uncharacterised protein family, methyltransferase, Williams-Beuren syndrome (IPR022238)

Short name: Unchr_MeTrfase_Williams-Beuren

Family relationships

None.

Description

This domain family is found in eukaryotes, and is typically between 72 and 83 amino acids in length. The family is found in association with PF08241. This family is made up of S-adenosylmethionine-dependent methyltransferases [PMID: 9873020]. The proteins are deleted in Williams-Beuren syndrome (WBS), a complex developmental disorder with multisystemic manifestations including supravalvular aortic stenosis (SVAS) and a specific cognitive phenotype [PMID: 11978965].

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
Pfam