methyltransferase WBSCR22; Williams-Beuren syndrome chromosomal region 22 protein; HUSSY-3; PP3381 (WBSCR22)

Function: - methyltransferase that may act on DNA Structure: - belongs to the methyltransferase superfamily Compartment: nucleus (putative) Alternative splicing: named isoforms=2 Expression: - highly expressed in heart, skeletal muscle & kidney - also expressed in spleen, liver, lung & testis Pathology: - WBSCR22 is located in the Williams-Beuren syndrome critical region - haploinsufficiency of WBSCR22 may be the cause of certain cardiovascular & musculoskeletal abnormalities observed in Williams-Beuren syndrome

Related

HUSSY protein Williams-Beuren syndrome

General

methyltransferase nuclear protein

Properties

SIZE: entity length = 281 aa MW = 32 kD COMPARTMENT: cell nucleus MOTIF: active site

Database Correlations

OMIM 194050 UniProt O43709 PFAM correlations Entrez Gene 114049 Kegg hsa:114049

References

UniProt :accession O43709