eukaryotic translation initiation factor 4H (eIF4H, Williams-Beuren syndrome chromosome region 1 protein, WBSCR1 WSCR1 KIAA0038)

Introduction

Haploinsufficiency resulting from gene deletion is associated with Williams-Beuren syndrome.

More general terms

• initiation factor
• RNA-binding protein

Additional terms

• Williams-Beuren syndrome; Williams syndrome

Database

• OMIM: https://mirror.omim.org/entry/194050
• UniProt: http://www.uniprot.org/uniprot/Q15056.html