KLHL4 - kelch like family member 4 Gene

中文名称：kelch 样家族成员 4

种属: Homo sapiens

同用名: KHL4; DKELCHL

基因 ID: 56062 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 kelch 蛋白家族的一个成员，其特征在于 kelch 重复基序和 POZ/BTB 蛋白结合域。人们认为 kelch 重复是肌动蛋白结合域。然而，这种蛋白质的具体功能尚未确定。该基因的可变剪接导致编码不同亚型的两个转录变体。[RefSeq 提供，2008 年 7 月]

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 基因产物(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 蛋白结构

BTB

BACK

Kelch_1

0
200
400
600
718 a.a.

蛋白主名

其他名称

kelch-like protein 4

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS07367	KLHL4 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 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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