2. Gene
  3. SLC6A17 - solute carrier family 6 member 17 Gene

SLC6A17 - solute carrier family 6 member 17 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：溶质载体家族 6 成员 17

种属: Homo sapiens

同用名: NTT4; MRT48

基因 ID: 388662 | 基因类型: protein coding

关于 SLC6A17

Cytogenetic location: 1p13.3 Genomic coordinates (GRCh38): 1:110,150,494-110,202,202 (from NCBI)

This gene has 2 transcripts (splice variants), 269 orthologues, 19 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 23.3), adrenal (RPKM 2.5) and 1 other tissue.

功能概要

该基因编码的蛋白质是 SLC6 转运蛋白家族的成员，负责大多数神经递质的突触前摄取。编码的囊泡转运蛋白对脯氨酸、甘氨酸、亮氨酸和丙氨酸具有选择性。在小鼠中，该基因的最强表达出现在皮层和海马组织中，这些组织的表达在胚胎大脑发育过程中增加，并在出生后达到峰值。该基因的缺陷会导致一种常染色体隐性智力障碍。[RefSeq 提供，2017 年 7 月]

The protein encoded by this gene is a member of the SLC6 family of transporters, which are responsible for the presynaptic uptake of most neurotransmitters. The encoded vesicular transporter is selective for proline, glycine, leucine and alanine. In mouse, the strongest expression of this gene was in cortical and hippocampal tissues where expression increased during embryonic brain development and peaked postnatally. Defects in this gene cause a form of autosomal recessive intellectual disability. [provided by RefSeq, Jul 2017]

SLC6A17 基因产物(1)

mRNA Protein Name
NM_001010898.4 NP_001010898.1 sodium-dependent neutral amino acid transporter SLC6A17
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

SLC6A17 蛋白结构

SNF

SNF: Sodium:neurotransmitter symporter family (60 - 642)

  • 0
  • 200
  • 400
  • 600
  • 727 a.a.
蛋白主名 其他名称

sodium-dependent neutral amino acid transporter SLC6A17

neurotransmitter transporter 4

关联疾病

疾病名称 别名
Intellectual Developmental Disorder, Autosomal Recessive 48

Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome

MRT48

Autosomal Recessive Intellectual Developmental Disorder 48
Trichothiodystrophy 2, Photosensitive

TTD2

Photosensitive Trichothiodystrophy 2
Tremor

Medicament-Induced Tremor

Medication-Induced Postural Tremor
Developmental And Epileptic Encephalopathy 3

Epileptic Encephalopathy, Early Infantile, 3

DEE3

Eiee3

Early Myoclonic Encephalopathy

Developmental And Epileptic Encephalopathy, 3

Early Infantile Epileptic Encephalopathy 3

Eme

Neonatal Epilepsy With Suppression-Burst Pattern

Encephalopathy, Epileptic, Early Infantile, Type 3
Trichothiodystrophy 3, Photosensitive

TTD3

Trichothiodystrophy, Complementation Group A

Ttda

Photosensitive Trichothiodystrophy 3

Trichothiodystrophy Complementation Group A
Retinitis Pigmentosa 68

RP68

Retinitis Pigmentosa, Type 68
Dicarboxylic Aminoaciduria

Glutamate-Aspartate Transport Defect

Dicarboxylicaminoaciduria

DCBXA

Renal Aminoacidurias
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
Iminoglycinuria

Iminoglycinuria, Digenic

IG
Hyperekplexia

Hereditary Hyperekplexia

Kok Disease

Congenital Stiff Man Syndrome

Familial Startle Disease

Sthe

Stiff-Baby Syndrome

Hereditary Hyperexplexia

Startle Disease

Exaggerated Startle Reaction

Hyperexplexia Hereditary

Startle Disease, Familial

Startle Reaction, Exaggerated

Stiff-Man Syndrome, Congenital

Stiff-Person Syndrome, Congenital

Congenital Stiff-Man Syndrome

Congenital Stiff-Person Syndrome

Familial Hyperekplexia

Startle Syndrome

Stiff Baby Syndrome

Hyperekplexia, Hereditary

Stiff-Person Syndrome
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS13303 SLC6A17 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 SLC6A17 VGNC VGNC:46459
Macaca mulatta SLC6A17 VGNC VGNC:77805
Mus musculus SLC6A17 MGD MGI:2442535
Rattus norvegicus SLC6A17 RGD RGD:1587185
Bos taurus SLC6A17 VGNC VGNC:50163
Felis catus SLC6A17 VGNC VGNC:65412
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z