EIF4H gene

eukaryotic translation initiation factor 4H

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes one of the translation initiation factors, which functions to stimulate the initiation of protein synthesis at the level of mRNA utilization. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]

From UniProt:

Stimulates the RNA helicase activity of EIF4A in the translation initiation complex. Binds weakly mRNA.

Covered on Genetics Home Reference:

From UniProt:

EIF4H is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of EIF4H may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.

Cytogenetic Location: 7q11.23, which is the long (q) arm of chromosome 7 at position 11.23

Molecular Location: base pairs 74,174,376 to 74,197,101 on chromosome 7 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 7q11.23, which is the long (q) arm of chromosome 7 at position 11.23
  • eIF-4H
  • WBSCR1
  • WSCR1