background:
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]
Function:
Stimulates the RNA helicase activity of EIF4A in the translation initiation complex. Binds weakly mRNA.
Subcellular Location:
Cytoplasm; perinuclear region.
Tissue Specificity:
The short isoform is the predominant isoform and is expressed alone in liver and skeletal muscle. Both isoforms are expressed in fibroblast, spleen, testis and bone marrow. Levels are high in lung and pancreas and low in heart, frontal cortex and kidney.
DISEASE:
Note=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.
Similarity:
Contains 1 RRM (RNA recognition motif) domain.
Database links:
Entrez Gene: 7458 Human
Entrez Gene: 517409 Cow
Entrez Gene: 22384 Mouse
Entrez Gene: 288599 Rat
Omim: 603431 Human
SwissProt: Q1JPH6 Cow
SwissProt: Q15056 Human
SwissProt: Q9WUK2 Mouse
SwissProt: Q5RBR8 Orangutan
SwissProt: Q5XI72 Rat
Unigene: 520943 Human
Unigene: 27955 Mouse
Unigene: 79423 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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