SLC7A9 - solute carrier family 7 member 9 Gene

中文名称：溶质载体家族 7 成员 9

种属: Homo sapiens

同用名: BAT1; CSNU3

基因 ID: 11136 | 基因类型: protein coding

关于 SLC7A9

Cytogenetic location: 19q13.11 Genomic coordinates (GRCh38): 19:32,830,511-32,869,767 (from NCBI)

This gene has 6 transcripts (splice variants), 241 orthologues, 12 paralogues and is associated with 2 phenotypes. Biased expression in small intestine (RPKM 31.7), duodenum (RPKM 21.2) and 2 other tissues.

功能概要

该基因编码的蛋白质属于氨基酸转运蛋白的轻型亚基家族。这种蛋白质在胱氨酸和中性和二元氨基酸的高亲和力和非钠依赖性转运中起作用，并且似乎在肾小管中胱氨酸的重吸收中起作用。该基因的突变会导致非 I 型胱氨酸尿症，这种疾病会由于胱氨酸和二元氨基酸的运输受损而导致泌尿系统中出现胱氨酸结石。已发现该基因的替代转录变体，其编码相同的蛋白质。[RefSeq 提供，2011 年 7 月]

This gene encodes a protein that belongs to a family of LIGHT subunits of amino acid transporters. This protein plays a role in the high-affinity and sodium-independent transport of cystine and neutral and dibasic Amino acids, and appears to function in the reabsorption of cystine in the kidney tubule. Mutations in this gene cause non-type I cystinuria, a disease that leads to cystine stones in the urinary system due to impaired transport of cystine and dibasic Amino acids. Alternate transcript variants, which encode the same protein, have been found for this gene. [provided by RefSeq, Jul 2011]

SLC7A9 基因产物(3)

mRNA	Protein	Name
NM_001126335.2	NP_001119807.1	B(0,+)-type amino acid transporter 1
NM_001243036.2	NP_001229965.1	B(0,+)-type amino acid transporter 1
NM_014270.5	NP_055085.1	B(0,+)-type amino acid transporter 1

SLC7A9 蛋白结构

AA_permease_2

0
100
200
300
400
487 a.a.

蛋白主名

其他名称

B(0,+)-type amino acid transporter 1

b(0,+)AT

关联疾病

疾病名称

别名

Cystinuria

CSNU	Cystinuria Type B
Cystinuria Type A	Cystinuria, Type I, Formerly
Csnu1, Formerly	Cystinuria, Type Ii, Formerly
Cystinuria, Type Iii, Formerly	Csnu3, Formerly
Cystinuria, Type Non-I, Formerly	Cystinuria-Lysinuria
Cystinuria-Lysinuria Syndrome	Csnu1
Csnu3	Cystinuria 1
Cystinuria Type A/B	Cystinuria Type I
Cystinuria Type Ii	Cystinuria Type Iii
Cystinuria Type Non-I	Cystinuria, Type A/B
Cystinuria Type 1	Cystinuria - Lysinuria
Csnu - [Cystinuria]	Cystine Disease

Ureteral Disease

Ureteral Diseases	Ureteral Disorders
Disorder Of Ureter

Aminoaciduria

Nephrolithiasis, Uric Acid

Nephrolithiasis, Uric Acid, Susceptibility To	Uric Acid Urolithiasis
Uric Acid Nephrolithiasis	UAN
Acute Urate Nephropathy	Urolithiasis, Uric Acid
Urolithiasis, Uric Acid, Susceptibility To	Uric Acid Renal Calculus

Hypotonia-Cystinuria Syndrome

Cystinuria With Mitochondrial Disease	2p21 Microdeletion Syndrome
HCS	Homozygous 2p16 Deletion Syndrome, Formerly
2p21 Deletion Syndrome	Del(2)(P21)
Monosomy 2p21	Atypical Hypotonia-Cystinuria Syndrome
Atypical Hcs

Amino Acid Metabolic Disorder

Amino Acid Metabolism, Inborn Errors	Inborn Errors Of Amino Acid Metabolism
Disorder Of Amino Acid Metabolism	Amino Acid Metabolism Disorders

Muscular Dystrophy, Congenital, Megaconial Type

Megaconial Type Congenital Muscular Dystrophy	Congenital Megaconial Myopathy
Congenital Muscular Dystrophy Due To Phosphatidylcholine Biosynthesis Defect	Congenital Muscular Dystrophy With Mitochondrial Structural Abnormalities
Megaconial Congenital Muscular Dystrophy	MDCMC
Muscular Dystrophy, Congenital, With Mitochondrial Structural Abnormalities	Megaconial Congénital Muscular Dystrophy
Dystrophy, Muscular, Congenital, Megaconial Type

Iminoglycinuria

Iminoglycinuria, Digenic

Xanthinuria

Xanthine Dehydrogenase Deficiency	Xanthine Oxidase Deficiency
Hereditary Xanthinuria	Xanthic Urolithiasis
Xanthine Stone Disease	Xanthinuria, Type I
Combined Deficiency Of Xanthine Dehydrogenase And Aldehyde Oxidase	Xdh Deficiency
Classic Xanthinuria	Xanthinuria, Type Ii
Classical Xanthinuria	Xanthine Calculus

Adenine Phosphoribosyltransferase Deficiency

Aprt Deficiency	2,8-Dihydroxyadenine Urolithiasis
APRTD	2,8-Dihydroxyadeninuria
Dihydroxyadeninuria	Urolithiasis, 2,8-Dihydroxyadenine
Urolithiasis, Dha	Nephrolithiasis, Dha
Dha Crystalline Nephropathy	Nephrolithiasis Dha
Urolithiasis Dha

Lysinuric Protein Intolerance

LPI	Dibasic Amino Aciduria Ii
Hyperdibasic Aminoaciduria	Dibasic Aminoaciduria 2
Dibasicamino Aciduria Ii	Congenital Lysinuria
Lpi - Lysinuric Protein Intolerance

Hartnup Disorder

Hartnup Disease	HND
Neutral 1 Amino Acid Transport Defect	Neutral Amino Acid Transport Defect
Deficiency Of Tryptophan Oxygenase	Hartnup'S Disease
Aminoaciduria, Hartnup Type	Disorder Of Neutral Amino Acid Transport

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-RS13336	SLC7A9 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	SLC7A9	VGNC	VGNC:77633
Bos taurus	SLC7A9	VGNC	VGNC:34934
Canis familiaris	SLC7A9	VGNC	VGNC:46479
Felis catus	SLC7A9	VGNC	VGNC:65428
Rattus norvegicus	SLC7A9	RGD	RGD:619905
Mus musculus	SLC7A9	MGD	MGI:1353656

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

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）

SLC7A9 - solute carrier family 7 member 9 Gene

关于 SLC7A9

功能概要

SLC7A9 基因产物(3)

SLC7A9 蛋白结构

关联疾病

直系同源

热门区域

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SLC7A9 - solute carrier family 7 member 9 Gene

关于 SLC7A9

功能概要

SLC7A9 基因产物(3)

SLC7A9 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