EIF4H - eukaryotic translation initiation factor 4H Gene

Homo sapiens

Also known as WSCR1; WBSCR1; eIF-4H

Gene ID: 7458 | Gene type: protein coding

About EIF4H

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:74,174,356-74,197,096 (from NCBI)

This gene has 14 transcripts (splice variants), 202 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in bone marrow (RPKM 113.5), placenta (RPKM 104.0) and 25 other tissues.

Summary

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]

EIF4H Products(2)

mRNA	Protein	Name
NM_022170.2	NP_071496.1	eukaryotic translation initiation factor 4H isoform 1
NM_031992.2	NP_114381.1	eukaryotic translation initiation factor 4H isoform 2

EIF4H Protein Structure

RRM_1

0
100
200
248 a.a.

Protein Preferred Names

Protein Names

eukaryotic translation initiation factor 4H

Williams-Beuren syndrome chromosome region 1

Related Diseases

Diseases

Alias

Williams-Beuren Syndrome

Williams Syndrome	WBS
Wms	Deletion 7q11.23
Monosomy 7q11.23	Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
Fanconi Schlesinger Syndrome	Beuren Syndrome
Elfin Facies Syndrome	Elfin Facies With Hypercalcemia
Hypercalcemia-Supravalvar Aortic Stenosis	Ws

Williams-Beuren Region Duplication Syndrome

7q11.23 Duplication Syndrome	7q11.23 Microduplication Syndrome
Chromosome 7q11.23 Duplication Syndrome	Wbs Duplication Syndrome
Somerville-Van Der Aa Syndrome	Dup(7)(Q11.23)
Trisomy 7q11.23	William-Beuren Region Duplication Syndrome
Chromosome 7q11.23 Duplication

Valproate Embryopathy

Fetal Valproate Syndrome	Fetal Valproic Acid Syndrome
Fvs	Valproic Acid Embryopathy
Fetal Valproate Spectrum Disorder	Valproate Embryopathy, Susceptibility To
Foetal Valproate Syndrome	Foetal Valproic Acid Syndrome
Susceptibility To Valproate Embryopathy	Valproic Acid Antenatal Infection

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04284	EIF4H Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	EIF4H	VGNC	VGNC:80568
Mus musculus	EIF4H	MGD	MGI:1341822
Macaca mulatta	EIF4H	VGNC	VGNC:103811
Rattus norvegicus	EIF4H	RGD	RGD:1359222
Canis familiaris	EIF4H	VGNC	VGNC:40291
Bos taurus	EIF4H	VGNC	VGNC:97266

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