KLHL4 - kelch like family member 4 Gene

Homo sapiens

Also known as KHL4; DKELCHL

Gene ID: 56062 | Gene type: protein coding

About KLHL4

Cytogenetic location: Xq21.31 Genomic coordinates (GRCh38): X:87,517,802-87,670,050 (from NCBI)

This gene has 3 transcripts (splice variants), 205 orthologues and 54 paralogues. Biased expression in adrenal (RPKM 14.7), testis (RPKM 4.7) and 4 other tissues.

Summary

This gene encodes a member of the kelch family of proteins, which are characterized by kelch repeat motifs and a POZ/BTB protein-binding domain. It is thought that kelch repeats are actin binding domains. However, the specific function of this protein has not been determined. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

KLHL4 Products(2)

mRNA	Protein	Name
NM_019117.5	NP_061990.2	kelch-like protein 4 isoform 1
NM_057162.3	NP_476503.1	kelch-like protein 4 isoform 2

KLHL4 Protein Structure

BTB

BACK

Kelch_1

0
200
400
600
718 a.a.

Protein Preferred Names

Protein Names

kelch-like protein 4

Related Diseases

Diseases

Alias

Cleft Palate With Or Without Ankyloglossia, X-Linked

Cleft Palate With Ankyloglossia	CPX
X-Linked Cleft Palate And Ankyloglossia	X-Linked Cleft Palate With Or Without Ankyloglossia
X-Linked Cleft Palate	X-Linked Cleft Palate With Ankyloglossia
Cleft Palate, With/Without Ankyloglossia, X-Linked

Deafness, X-Linked 7

X-Linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome	DFNX7
X-Linked Deafness 7	Deafness, X-Linked, 7

Thrombocytopenia-Absent Radius Syndrome

Tar Syndrome	Radial Aplasia-Thrombocytopenia Syndrome
Absent Radii And Thrombocytopenia	TAR
Chromosome 1q21.1 Deletion Syndrome, 200-Kb	Thrombocytopenia Absent Radius Syndrome
Thrombocytopenia Absent Radii	Chromosome 1q21.1 Deletion Syndrome
Thrombocytopenia With Absent Radii Syndrome	Radial Aplasia-Amegakaryocytic Thrombocytopenia

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-RS07367	KLHL4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	KLHL4	VGNC	VGNC:42471
Mus musculus	KLHL4	MGD	MGI:2442829
Bos taurus	KLHL4	VGNC	VGNC:30664
Rattus norvegicus	KLHL4	RGD	RGD:1565441
Macaca mulatta	KLHL4	VGNC	VGNC:74187
Others	KLHL4	NCBI

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