SLC7A7 - solute carrier family 7 member 7 Gene

中文名称：溶质载体家族 7 成员 7

种属: Homo sapiens

同用名: LPI; LAT3; MOP-2; Y+LAT1; y+LAT-1

基因 ID: 9056 | 基因类型: protein coding

关于 SLC7A7

Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:22,773,222-22,819,791 (from NCBI)

This gene has 24 transcripts (splice variants), 213 orthologues, 12 paralogues and is associated with 2 phenotypes. Biased expression in kidney (RPKM 96.7), small intestine (RPKM 45.3) and 11 other tissues.

功能概要

该基因编码的蛋白质是阳离子氨基酸转运蛋白的轻链亚基。当该基因编码的轻亚基与重亚基转运蛋白 SLC3A2 二聚化时，就会形成这种不依赖钠的转运蛋白。这种转运蛋白存在于上皮细胞膜中，它将阳离子和大的中性氨基酸从细胞转移到细胞外空间。该基因的缺陷是赖氨酸尿蛋白不耐受 (LPI) 的原因。可变剪接导致多个转录本变体。[RefSeq 提供，2011 年 7 月]

The protein encoded by this gene is the LIGHT subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the LIGHT subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral Amino acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance (LPI). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]

SLC7A7 基因产物(3)

mRNA	Protein	Name
NM_001126105.3	NP_001119577.1	Y+L amino acid transporter 1
NM_001126106.4	NP_001119578.1	Y+L amino acid transporter 1
NM_003982.4	NP_003973.3	Y+L amino acid transporter 1

SLC7A7 蛋白结构

AA_permease_2

0
100
200
300
400
511 a.a.

蛋白主名

其他名称

Y+L amino acid transporter 1

lysinuric protein intolerance (dibasicaminoaciduria II)

关联疾病

疾病名称

别名

Lysinuric Protein Intolerance

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

Autoinflammatory Syndrome

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

Orotic Aciduria

Hereditary Orotic Aciduria	Orotidylic Pyrophosphorylase And Orotidylic Decarboxylase Deficiency
Uridine Monophosphate Synthase Deficiency	Umps Deficiency
Uridine Monophosphate Synthetase Deficiency	Orotic Aciduria I
Orotate Phosphoribosyltransferase And Orotidylic Decarboxylase Deficiency	Oprt And Odc Deficiency
Ump Synthase Deficiency	Orotic Aciduria Ii
Oroticaciduria 1	Orotic Aciduria Hereditary
Orotic Aciduria Type 1	Hereditary Orotic Aciduria Without Megaloblastic Anemia
Orotate Phosphoribosyltransferase And Omp Decarboxylase Deficiency	Ump Synthtase Deficiency
Umps	Orotidylic Decarboxylase Deficiency
Orotic Aciduria 1	ORAC1
Aciduria, Orotic	Hereditary Orotic Aciduria, Type 1
Orotic Aciduria Nos	Orotaciduric Anaemia
Orotic Aciduria Anaemia	Orotic Aciduria Megaloblastic Anaemia

Fanconi Syndrome

Infantile Nephropathic Cystinosis	Adult Fanconi Syndrome
Congenital Fanconi Syndrome	De Toni-Fanconi Syndrome
Fanconi-De Toni Syndrome	Lignac-Fanconi Syndrome
Fanconi Renotubular Syndrome	Primary Fanconi Renotubular Syndrome
De Toni-Debre-Fanconi Syndrome	Adult Fanconi Anemia
Detoni Fanconi Syndrome	Fanconi-De-Toni Syndrome
Primary Fanconi Syndrome	Detoni-Debre-Fanconi Syndrome
Primary Fanconi Renal Syndrome	Fanconi Anemia
Cystinosis, Infantile Nephropathic	Fanconi-Bickel Syndrome
Renal Fanconi Syndrome	Lowe-Bickel Syndrome

Pyrimidine Metabolic Disorder

Disorder Of Pyrimidine Metabolism

Pyrimidine Metabolism Disorder

Osteoporosis

Postmenopausal Osteoporosis	Osteoporosis, Postmenopausal
Bone Mineral Density Quantitative Trait Locus	Bmnd
Osteoporosis, Involutional	Osteoporosis, Susceptibility To
Osteoporosis, Postmenopausal, Susceptibility	Bone Mineral Density Variation Qtl, Osteoporosis
OSTEOP	Involutional Osteoporosis
Senile Osteoporosis	Osteoporosis Postmenopausal
Bone Mineral Density, Quantitative Trait Locus	Osteoporosis, Senile
Idiopathic Osteoporosis	Bone Rarefaction Nos
Type 1 Osteoporosis

Urea Cycle Disorder

Urea Cycle Disorders	Urea Cycle Disorders, Inborn
Disorder Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia	Disorder Of Urea Cycle Metabolism
Urea Cycle Defect	Ucd
Disorder Of The Urea Cycle Metabolism	Disorder Of Urea Cycle
Disorders Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia	Ammonia Metabolic Disorder

N-Acetylglutamate Synthase Deficiency

Nags Deficiency	N-Acetylglutamate Synthetase Deficiency
Hyperammonemia, Type Iii	Hyperammonemia Due To N-Acetylglutamate Synthetase Deficiency
NAGSD	Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
N-Acetyl Glutamate Synthetase Deficiency	Nag Synthetase Deficiency
Deficiency, N-Acetylglutamate Synthase

Argininemia

Hyperargininemia	Arginase Deficiency
Arg1 Deficiency	Arginase-1 Deficiency
Deficiency Of Canavanase	Arginase Deficiency Disease
ARGIN

Amino Acid Metabolic Disorder

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

Argininosuccinic Aciduria

Argininosuccinate Lyase Deficiency	Asl Deficiency
Argininosuccinic Acid Lyase Deficiency	Argininosuccinase Deficiency
Argininosuccinic Acidemia	Arginosuccinase Deficiency
Asa Deficiency	Argininosuccinicaciduria
Asauria	Deficiency Of Argininosuccinate Lyase
Asld	Arginino Succinase Deficiency
Argininosuccinate Acidemia	Inborn Error Of Urea Synthesis, Arginino Succinic Type
Urea Cycle Disorder, Arginino Succinase Type	Argininosuccinyl-Coa Lyase Deficiency
Asa	Argininosuccinatelyase Deficiency
ARGINSA	Aciduria Argininosuccinic
Citrullinemia	Argininosuccinic Acidaemia
Metabolic Disorder Of Arginosuccinic Acid

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-RS13334	SLC7A7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	SLC7A7	VGNC	VGNC:97633
Macaca mulatta	SLC7A7	VGNC	VGNC:77631
Mus musculus	SLC7A7	MGD	MGI:1337120
Canis familiaris	SLC7A7	VGNC	VGNC:46477
Rattus norvegicus	SLC7A7	RGD	RGD:619902
Bos taurus	SLC7A7	VGNC	VGNC:34932
Others	SLC7A7	NCBI

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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）

SLC7A7 - solute carrier family 7 member 7 Gene

关于 SLC7A7

功能概要

SLC7A7 基因产物(3)

SLC7A7 蛋白结构

关联疾病

直系同源

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SLC7A7 - solute carrier family 7 member 7 Gene

关于 SLC7A7

功能概要

SLC7A7 基因产物(3)

SLC7A7 蛋白结构

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

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