EIF4H

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]

Description

eukaryotic translation initiation factor 4H

Protein family

Cancer-related genes, Disease related genes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Plasma proteins, Predicted intracellular proteins, Protein evidence (Peptideatlas)

Chromosome

7:q11.23 (74174245 - 74197101)

Ensembl ID

ENSG00000106682  (ver. 98.38)

Orthologs

Mouse Eif4h: ENSMUSG00000040731

UniProt

Q15056

neXtProt

NX_Q15056

Human splice variants
Mouse splice variants