SPR - sepiapterin reductase Gene

中文名称：墨蝶呤还原酶

种属: Homo sapiens

同用名: SDR38C1

基因 ID: 6697 | 基因类型: protein coding

关于 SPR

Cytogenetic location: 2p13.2 Genomic coordinates (GRCh38): 2:72,887,408-72,892,158 (from NCBI)

This gene has 2 transcripts (splice variants), 240 orthologues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 23.8), colon (RPKM 21.8) and 24 other tissues.

功能概要

该基因编码醛酮还原酶，催化蝶啶衍生物的 NADPH 依赖性还原，在四氢生物蝶呤 (BH4) 的生物合成中很重要。由于 sepiaterin 还原酶缺乏，该基因的突变导致多巴反应性肌张力障碍。已在 1 号染色体上鉴定出假基因。[RefSeq 提供，2008 年 7 月]

This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene result in DOPA-responsive dystonia due to sepiaterin reductase deficiency. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008]

SPR 基因产物(1)

mRNA	Protein	Name
NM_003124.5	NP_003115.1	sepiapterin reductase

SPR 蛋白结构

adh_short

0
100
200
261 a.a.

蛋白主名

其他名称

sepiapterin reductase

Sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming)

关联疾病

疾病名称

别名

Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency

Sepiapterin Reductase Deficiency	Spr Deficiency
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Srd
Drd Due To Srd	Dopa-Responsive Hypersomnia
Dyt-Spr	Dyt/Park-Spr
Sr-Deficient Drd	Autosomal Recessive Sepiapterin Reductase-Deficient Drd
Spr	DRDSPRD
Motor And Cognitive Disorder Due To Sepiapterin Reductase Deficiency	Psychomotor Disorders

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Hyperphenylalaninemia

Hyperphenylalaninaemia

Dystonia, Dopa-Responsive

Dystonia 5	Dopa-Responsive Dystonia
DRD	Dyt5
Dystonia-Parkinsonism With Diurnal Fluctuation	Dyt-Th
Hpd With Diurnal Fluctuation	Hereditary Progressive Dystonia With Diurnal Fluctuation
Dystonia, Progressive, With Diurnal Variation	Segawa Syndrome, Autosomal Dominant
Dystonia, Dopa-Responsive, Autosomal Dominant	Dopa-Responsive Dystonia, Autosomal Dominant
Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia	Dyt-Gch1
Dyt-Spr	Dystonia 5, Dopa-Responsive Type
Hereditary Progressive Dystonia With Marked Diurnal Fluctuation	Autosomal Dominant Dopa-Responsive Dystonia
Autosomal Dominant Segawa Syndrome	Dystonia-5
Progressive Dystonia With Diurnal Fluctuation	Dystonia, Type 5, Dopa-Responsive Type

Hyperphenylalaninemia, Bh4-Deficient, B

Gtp Cyclohydrolase I Deficiency	HPABH4B
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Gtp Cyclohydrolase I Deficiency	Bh4-Deficient Hyperphenylalaninemia B
Gtp Cyclohydrolase 1 Deficiency	Tetrahydrobiopterin-Deficient Hyperphenylalaninemia B
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Gtp Cyclohydrolase 1 Deficiency	Gtpch Deficiency
Hyperphenylalaninemia Due To Gtp Cyclohydrolase Deficiency	Atypical Severe Phenylketonuria Due To Gtp Cyclohydrolase I Deficiency
Gch1 Deficiency	Guanosine Triphosphate Cyclohydrolase I Deficiency
Hyperphenylalaninemia With Neopterin Deficiency

Hyperphenylalaninemia, Bh4-Deficient, A

6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pts Deficiency
HPABH4A	Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Pts Deficiency
Ptsd	Bh4-Deficient Hyperphenylalaninemia A
Hyperphenylalaninemia Due To 6-Pyruvoyltetrahydropterin Synthase Deficiency	Tetrahydobioperin-Deficient Hyperphenylalaninemia Due To Pts Deficiency
Hyperphenylalanemia, Bh4-Deficient, A	Hyperphenylalaninemia Due To 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
6-Pyruvoyltetrahydropterin Synthase Deficiency	Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due To Pts Deficiency
Ptpsd	Hyperphenylalaninemia, Bh4-Deficient, Type A

Parkinson Disease, Late-Onset

Parkinson Disease	Parkinson'S Disease
PD	PARK
Parkinson Disease, Susceptibility To	Late Onset Parkinson'S Disease
Late Onset Parkinson Disease	Paralysis Agitans
Primary Parkinsonism	Idiopathic Parkinson Disease
Parkinson'S	Parkinson Disease, Late-Onset, Susceptibility To
Parkinson Disease, Age Of Onset, Modifier	Lewy Body Parkinson Disease
Idiopathic Parkinson'S Disease	Pd - [Parkinson Disease]
Parkinson Disease Nos	Parkinson, Nos
Primary Parkinson Disease

Aromatic L-Amino Acid Decarboxylase Deficiency

Aadc Deficiency	Dopa Decarboxylase Deficiency
Ddc Deficiency	Aromatic Amino Acid Decarboxylase Deficiency
Deficiency Of Aromatic-L-Amino-Acid Decarboxylase	AADCD
Aromatic-L-Amino-Acid Decarboxylase Deficiency	Aromatic L-Amino-Acid Decarboxylase Deficiency

Parkinson Disease 3, Autosomal Dominant

PARK3	Parkinson Disease 3
Parkinson Disease 3, Autosomal Dominant Lewy Body	Parkinson'S Disease 3
Autosomal Dominant Lewy Body Parkinson Disease 3	Autosomal Dominant Parkinson Disease 3
Parkinson Disease Type 3	Autosomal Dominant Parkinson Disease
Parkinson Disease, Autosomal Dominant	Parkinson Disease, Familial, Type 1

Oculogyric Crisis

Segmental Dystonia

Movement Disease

Movement Disorders

Movement Disorder

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-P9905	Cetuximab	Inhibitor	99.70%	否

目录号	产品名	作用方式	纯度	Phase
HY-101533	AZD-5991	Inhibitor	99.50%	Phase 2
HY-113603	Tildacerfont	Inhibitor	98.25%	Phase 2
HY-135655	Fobrepodacin disodium	Inhibitor	99.53%	Phase 2
HY-135655A	Fobrepodacin	Inhibitor	/	Phase 2
HY-P1649B	SPR741 acetate	Inhibitor	99.95%	Phase 1
HY-128780B	SPR206 acetate	Inhibitor	99.74%	Phase 1
HY-128780	Upleganan	Inhibitor	/	Phase 1
HY-101533B	AZD-5991 (S-enantiomer)	Inhibitor	99.83%	Phase 1
HY-P1649	SPR741	Inhibitor	/	Phase 1
HY-P1649A	SPR741 TFA	Inhibitor	/	Phase 1

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-115510	SPR inhibitor 3	Inhibitor	99.84%	否
HY-13963	ZCL278	Inhibitor	98.46%	否
HY-114388	QM385	Inhibitor	99.87%	否
HY-12930	SPR719	Inhibitor	99.50%	否
HY-135691	hnRNPK-IN-1		≥97.0%	否
HY-101964	SPI-112	Inhibitor	97.06%	否
HY-101931	hVEGF-IN-1	Inhibitor	99.26%	否
HY-122611A	CSRM617 hydrochloride		99.97%	否
HY-P3143A	BMSpep-57 hydrochloride	Inhibitor	99.69%	否
HY-Y1049	2-Amino-6-bromopyridine	Inhibitor	/	否
HY-160477	DC-SX029	Inhibitor	/	否
HY-122611	CSRM617		/	否
HY-150506	SPR7	Inhibitor	/	否
HY-152220	SPR39	Inhibitor	/	否
HY-152222	SPR38	Inhibitor	/	否
HY-152224	SPR41	Inhibitor	/	否
HY-160481	MG-1102	Inhibitor	/	否
HY-P3143	BMSpep-57	Inhibitor	/	否
HY-P3852	Neurokinin Receptor (393-407), rat		/	否
HY-RS13708	SPR Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	SPR	MGD	MGI:103078
Felis catus	SPR	VGNC	VGNC:81225
Bos taurus	SPR	VGNC	VGNC:58612
Canis familiaris	SPR	VGNC	VGNC:49109
Rattus norvegicus	SPR	RGD	RGD:3753
Macaca mulatta	SPR	VGNC	VGNC:77866
Others	SPR	NCBI

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