2. Gene
  3. SARDH - sarcosine dehydrogenase Gene

SARDH - sarcosine dehydrogenase Gene

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

中文名称：肌氨酸脱氢酶

种属: Homo sapiens

同用名: SAR; SDH; SARD; BPR-2; DMGDHL1

基因 ID: 1757 | 基因类型: protein coding

关于 SARDH

Cytogenetic location: 9q34.2 Genomic coordinates (GRCh38): 9:133,659,418-133,739,955 (from NCBI)

This gene has 7 transcripts (splice variants), 200 orthologues, 10 paralogues and is associated with 1 phenotype. Biased expression in liver (RPKM 15.5), kidney (RPKM 6.4) and 6 other tissues.

功能概要

该基因编码一种定位于线粒体基质的酶，该酶催化肌氨酸的氧化去甲基化。这种酶不同于另一种线粒体基质酶二甲基甘氨酸脱氢酶，后者催化导致肌氨酸形成的反应。该基因的突变与肌氨酸血症有关。已经描述了选择性剪接的转录物变体。[RefSeq 提供，2008 年 10 月]

This gene encodes an enzyme localized to the mitochondrial matrix which catalyzes the oxidative demethylation of sarcosine. This enzyme is distinct from another mitochondrial matrix enzyme, dimethylglycine dehydrogenase, which catalyzes a reaction resulting in the formation of sarcosine. Mutations in this gene are associated with sarcosinemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2008]

SARDH 基因产物(2)

mRNA Protein Name
NM_001134707.2 NP_001128179.1 sarcosine dehydrogenase, mitochondrial precursor
NM_007101.4 NP_009032.2 sarcosine dehydrogenase, mitochondrial precursor

SARDH 蛋白结构

DAO

DAO: FAD dependent oxidoreductase (69 - 427)

GCV_T

GCV_T: Aminomethyltransferase folate-binding domain (570 - 797)

GCV_T_C

GCV_T_C: Glycine cleavage T-protein C-terminal barrel domain (807 - 872)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 918 a.a.
蛋白主名 其他名称

sarcosine dehydrogenase, mitochondrial

dimethylglycine dehydrogenase-like 1

关联疾病

疾病名称 别名
Sarcosinemia

Sarcosine Dehydrogenase Complex Deficiency

Sard Deficiency

Sardh Deficiency

SARCOS

Hypersarcosinemia

Sardhd

Demethylation Defect Of N-Methylglycine
Dimethylglycine Dehydrogenase Deficiency

Dmgdh Deficiency

DMGDHD

Dmg Dehydrogenase Deficiency

Deficiency, Dimethylglycine Dehydrogenase
Neural Tube Defects

Spina Bifida

Neural Tube Defect

NTD

Neural Tube Defects, Susceptibility To

Spinal Dysraphism

Spina Bifida, Susceptibility To

Rachischisis

Cleft Spine

Open Spine

Hydrocele Spinalis

Neural Tube Defect Nos

Sb - [Spina Bifida]

Spinal Hernia Nos

Spinal Fissure Nos
Glycine N-Methyltransferase Deficiency

GNMT DEFICIENCY

Hypermethioninemia Due To Glycine N-Methyltransferase Deficiency

Hypermethioninemia Due To Gnmt Deficiency

Hypermethioninemia

Hepatic Methionine Adenosyltransferase Deficiency
Hypermethioninemia

Hepatic Methionine Adenosyltransferase Deficiency

Deficiency Of Methionine Adenosyltransferase

Glycine N-Methyltransferase Deficiency

Met

S-Adenosylhomocysteine Hydrolase Deficiency

Gnmt Deficiency

Mat Deficiency

Methionine Adenosyltransferase Deficiency

Methioninemia

Deficiency Of Acetyl-Coa Acetyltransferase
Variegate Porphyria

Porphyria Variegata

Protoporphyrinogen Oxidase Deficiency

VP

Ppox Deficiency

Porphyria, South African Type

Porphyria Variegata, Susceptibility To

Protocoproporphyria

Porphyria Variegate

Porphyria South African Type

Pv

Porphyria, Variegate

Vp - [Variegate Porphyria]
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
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 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS12445 SARDH Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS22795 Sardh Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS29309 Sardh Rat 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 SARDH VGNC VGNC:45867
Bos taurus SARDH VGNC VGNC:34289
Rattus norvegicus SARDH RGD RGD:621125
Felis catus SARDH VGNC VGNC:64874
Mus musculus SARDH MGD MGI:2183102
Macaca mulatta SARDH VGNC VGNC:76971
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