1. Gene
  2. GLDC - glycine decarboxylase Gene

GLDC - glycine decarboxylase Gene

中文名称:甘氨酸脱羧酶

种属: Homo sapiens

同用名: GCE; GCSP; HYGN1

基因 ID: 2731 | 基因类型: protein coding

关于 GLDC

Cytogenetic location: 9p24.1 Genomic coordinates (GRCh38): 9:6,532,467-6,645,729 (from NCBI)

This gene has 22 transcripts (splice variants), 214 orthologues and is associated with 5 phenotypes. Biased expression in kidney (RPKM 25.8), placenta (RPKM 17.4) and 4 other tissues.

功能概要

甘氨酸的降解是由甘氨酸裂解系统引起的,该系统由四种线粒体蛋白质成分组成:P 蛋白 (一种磷酸吡哆醛依赖性甘氨酸脱羧酶) 、H 蛋白 (一种含硫辛酸的蛋白) 、T 蛋白 (一种四氢叶酸-需要酶) 和 L 蛋白 (硫辛酰胺脱氢酶) 。该基因编码的蛋白质是 P 蛋白,它与甘氨酸结合,使甘氨酸的甲胺基转移到 T 蛋白上。该基因的缺陷是非酮症高甘氨酸血症 (NKH) 的一个原因。[RefSeq 提供,2010 年 1 月]

Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the P protein, which binds to glycine and enables the methylamine group from glycine to be transferred to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH).[provided by RefSeq, Jan 2010]

GLDC 基因产物(1)

mRNA Protein Name
NM_000170.3 NP_000161.2 glycine dehydrogenase (decarboxylating), mitochondrial precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables glycine dehydrogenase (decarboxylating) activity IDA
IDA: 通过直接分析推断
28244183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in glycine catabolic process IDA
IDA: 通过直接分析推断
28244183 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrion IDA
IDA: 通过直接分析推断
28244183 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

GLDC 蛋白结构

GDC-P

GDC-P: Glycine cleavage system P-protein (65 - 488)

Beta_elim_lyase

Beta_elim_lyase: Beta-eliminating lyase (586 - 729)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1020 a.a.
蛋白主名 其他名称

glycine dehydrogenase (decarboxylating), mitochondrial

glycine cleavage system protein P

GLDC 抗体

目录号 产品名 应用 反应物种
HY-P89593 GLDC Antibody (YA8937) WB, ICC/IF, IF-Tissue, IP, ELISA human, mouse, rat

关联疾病

疾病名称 别名
Glycine Encephalopathy

Non-Ketotic Hyperglycinemia

Nonketotic Hyperglycinemia

NKH

GCE

Hyperglycinemia, Nonketotic

Hyperglycinemia Nonketotic

Infantile Glycine Encephalopathy

Encephalopathy, Glycine

Glycine Synthase Deficiency

Nka

Neonatal Glycine Encephalopathy

Classic Glycine Encephalopathy

Neonatal Nkh

Neonatal Non-Ketotic Hyperglycinemia

Infantile Nkh

Infantile Non-Ketotic Hyperglycinemia

Non-Ketotic Hyperglycinaemia

Glycine Cleavage Deficiency

Nonketotic Hyperglycinaemia

Atypical Glycine Encephalopathy

Atypical Nka

Atypical Non-Ketotic Hyperglycinemia

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

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

Developmental And Epileptic Encephalopathy 21

DEE21

Epileptic Encephalopathy, Early Infantile, 21

Eiee21

Developmental And Epileptic Encephalopathy, 21

Early Infantile Epileptic Encephalopathy 21

Encephalopathy, Epileptic, Early Infantile, Type 21

Gillespie Syndrome

GLSP

Aniridia, Cerebellar Ataxia And Mental Deficiency

Aniridia Cerebellar Ataxia Mental Deficiency

Aniridia, Cerebellar Ataxia, And Mental Retardation

Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome

Aniridia-Cerebellar Ataxia-Intellectual Disability

Aniridia-Cerebellar Ataxia-Mental Deficiency

Partial Aniridia-Cerebellar Ataxia-Oligophrenia

Aniridia, Cerebellar Ataxia, And Intellectual Disability

X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome

Mrxs13

Lindsay-Burn Syndrome

Ppm-X

Ppm-X Syndrome

Mental Retardation With Psychosis, Pyramidal Signs, And Macroorchidism

Mental Retardation, X-Linked, Syndromic 13

X-Linked Mental Retardation 79

X-Linked Mental Retardation With Spasticity

Intellectual Deficit, X-Linked - Psychosis - Macroorchidism

Intellectual Disability Psychosis Macroorchidism

Intellectual Disability With Psychosis, Pyramidal Signs, And Macroorchidism

Intellectual Disability, X-Linked, Syndromic 13

Ppmx

X-Linked Mental Retardation, Syndromic 13

Cutis Laxa, Autosomal Dominant 1

Cutis Laxa, Autosomal Dominant

Autosomal Dominant Cutis Laxa

ADCL1

Adcl

Autosomal Dominant Cutis Laxa 1

Cutis Laxa, Autosomal Dominant, 1

Cutis Laxa, Autosomal Dominant, Type 1

Histidinemia

Histidine Ammonia-Lyase Deficiency

Hal Deficiency

Histidase Deficiency

His Deficiency

Histidinuria

Hyperhistidinemia

HISTID

Histidinuria Renal Tubular Defect

Phosphoglycerate Dehydrogenase Deficiency

Phgdh Deficiency

3-Phosphoglycerate Dehydrogenase Deficiency

PHGDHD

3-Pgdh Deficiency

3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form

Phgdh Deficiency, Infantile/Juvenile Form

Deficiency, Phosphoglycerate Dehydrogenase

Treacher Collins Syndrome 1

Treacher Collins Syndrome

Mandibulofacial Dysostosis

Treacher Collins-Franceschetti Syndrome

Tcof

Tcs

Mfd1

Franceschetti-Klein Syndrome

TCS1

Franceschetti Syndrome

Franceschetti-Zwahlen-Klein Syndrome

Zygoauromandibular Dysplasia

Treacher-Collins Syndrome

Mandibulofacial Dysostosis Without Limb Anomalies

Bilateral And Symmetric Oto-Mandibular Dysplasia

Histidine Metabolism Disease

Disturbances Of Histidine Metabolism

Disorder Of Histidine Metabolism

Disturbance Of Histidine Metabolism

White-Sutton Syndrome

WHSUS

Mrd37

Intellectual Disability-Microcephaly-Strabismus-Behavioral Abnormalities Syndrome

Mental Retardation, Autosomal Dominant 37

Autosomal Dominant Mental Retardation 37

Pogz-Related Intellectual Disability Syndrome

Serine Deficiency
Amino Acid Metabolic Disorder

Amino Acid Metabolism, Inborn Errors

Inborn Errors Of Amino Acid Metabolism

Disorder Of Amino Acid Metabolism

Amino Acid Metabolism Disorders

Propionic Acidemia

Ketotic Hyperglycinemia

Propionyl-Coa Carboxylase Deficiency

Pcc Deficiency

Propionicacidemia

Glycinemia, Ketotic

Hyperglycinemia With Ketoacidosis And Leukopenia

Ketotic Glycinemia

Propionic Aciduria

Prop

Acidemia, Propionic

PA-1

Ketotic Ii Glycinemia

Hyperglycinemia, Ketotic

Propionic Acidemia Type I

Propionic Acidemia Type Ii

PA-2

Propionicaciduria

Anencephaly

Aprosencephaly

Anencephalus

Congenital Absence Of Brain

Absence Of A Large Part Of The Brain And The Skull

Anencephalia

Anencephalic Monster

Brain Absence

Brain Agenesis

Brain Aplasia

Absent Brain

Anencephalic

Congenital Absence Of Cerebrum

Congenital Hemicrania

Incomplete Anencephaly

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System 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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta GLDC VGNC VGNC:73066
Mus musculus GLDC MGD MGI:1341155
Canis familiaris GLDC VGNC VGNC:41252
Rattus norvegicus GLDC RGD RGD:1308660
Felis catus GLDC VGNC VGNC:62574
Bos taurus GLDC VGNC VGNC:29395