XK - X-linked Kx blood group antigen, Kell and VPS13A binding protein Gene

中文名称：X 连锁 Kx 血型抗原、Kell 和 VPS13A 结合蛋白

种属: Homo sapiens

同用名: KX; NA; NAC; X1k; XKR1

基因 ID: 7504 | 基因类型: protein coding

关于 XK

Cytogenetic location: Xp21.1 Genomic coordinates (GRCh38): X:37,685,791-37,732,130 (from NCBI)

This gene has 1 transcript (splice variant), 188 orthologues, 2 paralogues and is associated with 2 phenotypes. Broad expression in colon (RPKM 3.9), small intestine (RPKM 3.0) and 18 other tissues.

功能概要

该基因座控制凯尔血型“前体物质” (Kx) 的合成。该基因的突变与麦克劳德综合征有关，麦克劳德综合征是一种 X 连锁的隐性疾病，其特征是神经肌肉和造血系统异常。编码的蛋白质具有原核和真核膜转运蛋白的结构特征。[RefSeq 提供，2008 年 7 月]

This locus controls the synthesis of the Kell blood group 'precursor substance' (Kx). Mutations in this gene have been associated with McLeod syndrome, an X-linked, recessive disorder characterized by abnormalities in the neuromuscular and hematopoietic systems. The encoded protein has structural characteristics of prokaryotic and eukaryotic membrane transport proteins. [provided by RefSeq, Jul 2008]

XK 基因产物(1)

mRNA	Protein	Name
NM_021083.4	NP_066569.1	endoplasmic reticulum membrane adapter protein XK precursor

XK 蛋白结构

XK-related

0
100
200
300
400
444 a.a.

蛋白主名

其他名称

endoplasmic reticulum membrane adapter protein XK

membrane transport protein XK

Kell blood group precursor (McLeod phenotype)

关联疾病

疾病名称

别名

Mcleod Syndrome

Mcleod Neuroacanthocytosis Syndrome	MLS
X-Linked Mcleod Syndrome	Mcleod Phenotype
Neuroacanthocytosis, Mcleod Type	Mcleod Syndrome With Or Without Chronic Granulomatous Disease
MCLDS	Mcleod Type Neuroacanthocytosis
Mcleod Syndrome With Chronic Granulomatous Disease	Neuroacanthocytosis Mcleod Type
Blood Group Deletion Syndrome

Neuroacanthocytosis

Neuroacanthocytosis Syndrome

Choreoacanthocytosis

Chorea-Acanthocytosis	CHAC
Acanthocytosis With Neurologic Disorder	Levine-Critchley Syndrome
Choreaacanthocytosis	Chorea Acanthocytosis
Neuroacanthocytosis	Levine-Critchley Syndrome, Formerly
Neuroacanthocytosis, Formerly	Choreo-Acanthocytosis
Acanthocytosis Chorea	Chorea Acanthocytosis Syndrome

Chronic Granulomatous Disease

Cgd	Granulomatous Disease, Chronic
Autosomal Recessive Chronic Granulomatous Disease	X-Linked Chronic Granulomatous Disease
Bridges-Good Syndrome	Congenital Dysphagocytosis
Quie Syndrome	Chronic Septic Granulomatosis
Chronic Granulomatous Disorder	Granulomatous Disease Chronic
Granulomatous Disease, Chronic, X-Linked

Huntington Disease

Huntington'S Disease	Huntington Chorea
Huntington'S Chorea	HD
Huntington Chronic Progressive Hereditary Chorea	Juvenile Huntington Disease
Chronic Progressive Chorea	Chronic Progressive Hereditary Chorea
Hc - [Huntington Chorea]	Hereditary Chorea
Progressive Hereditary Chorea

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy	Primary Dilated Cardiomyopathy
Idiopathic Dilated Cardiomyopathy	Congestive Cardiomyopathy
Idiopathic Dilation Cardiomyopathy	Primary Familial Dilated Cardiomyopathy
Cardiomyopathy, Dilated	DCM
Cardiomyopathy, Familial Dilated	Dilated Cardiomyopathy, Familial
Hypokinetic Dilated Cardiomyopathy, Familial	Familial Idiopathic Cardiomyopathy
Fdc	Cardiomyopathy, Familial Idiopathic
Idiopathic Cardiomegaly	Dilated Congestive Cardiomyopathy
Chronic Dilated Cardiomyopathy	Ccm - [Congestive Cardiomyopathy]
Cocm - [Congestive Cardiomyopathy]	Dcm - [Dilated Cardiomyopathy]
Dilated-Hypokinetic Cardiomyopathy	Congestive Idiopathic Cardiomyopathy
Primary Idiopathic Dilated Cardiomyopathy

Granulomatous Disease, Chronic, X-Linked

CGDX	Chronic Granulomatous Disease, X-Linked
X-Linked Chronic Granulomatous Disease	Cgd
Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked	Cdgx
X-Linked Chronic Cytochrome B-Negative Granulomatous Disease	Chronic Granulomatous Disease Cytochrome B-Negative X-Linked
Chronic Granulomatous Disease Cytochrome B-Positive X-Linked	Granulomatous Disease, Chronic, X-Linked, Variant

Gallbladder Benign Neoplasm

Phagocyte Bactericidal Dysfunction

Phagocytic Dysfunction

Gallbladder Adenoma

Myopathy

Muscular Diseases

Myopathies

Muscular Dystrophy, Duchenne Type

Duchenne Muscular Dystrophy	DMD
Muscular Dystrophy, Duchenne	Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type
Severe Dystrophinopathy, Duchenne Type	Muscular Dystrophy Duchenne
Dystrophy, Muscular, Duchenne Type	Benign Duchenne Muscular Dystrophy
Duchenne Motor Neuron Disease	Duchenne Type Dystrophy
Duchenne-Griesinger Disease

Spermatogenic Failure, Y-Linked, 2

SPGFY2	Spermatogenic Failure, Nonobstructive, Y-Linked
Y-Linked Spermatogenic Failure 2	Azoospermia, Nonobstructive, Y-Linked
Oligozoospermia, Nonobstructive, Y-Linked	Oligospermia, Nonobstructive, Y-Linked
Spermatogenic Arrest, Y-Linked	Nonobstructive Y-Linked Spermatogenic Failure
Spermatogenic Failure Y-Linked 2	Azoospermia Non-Obstructive Y-Linked
Non-Obstructive Azoospermia And Infertility	Oligospermia Non-Obstructive Y-Linked
Oligozoospermia Non-Obstructive Y-Linked	Spermatogenic Arrest Y-Linked
Spermatogenic Failure Nonobstructive Y-Linked

Choreatic Disease

Chorea

Hereditary Chorea

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

目录号	产品名	作用方式	纯度	是否罕见病
HY-B1915	Micronomicin	Inhibitor	95.16%	否

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-108307	Micronomicin sulfate	Inhibitor	≥98.0%	否
HY-113799	Echinosporin		/	否
HY-120679	XK469		/	否
HY-RS15878	XK Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	XK	RGD	RGD:1359650
Mus musculus	XK	MGD	MGI:103569
Macaca fascicularis	XK	NCBI	NCBI:102122017

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

XK - X-linked Kx blood group antigen, Kell and VPS13A binding protein Gene

关于 XK

功能概要

XK 基因产物(1)

XK 蛋白结构

关联疾病

直系同源

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XK - X-linked Kx blood group antigen, Kell and VPS13A binding protein Gene

关于 XK

功能概要

XK 基因产物(1)

XK 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z