1. Gene
  2. GLDC - glycine decarboxylase Gene

GLDC - glycine decarboxylase Gene

Homo sapiens

Also known as GCE; GCSP; HYGN1

Gene ID: 2731 | Gene type: protein coding

About 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.

Summary

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 Products(1)

mRNA Protein Name
NM_000170.3 NP_000161.2 glycine dehydrogenase (decarboxylating), mitochondrial precursor

GLDC Protein Structure

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.
Protein Preferred Names Protein Names

glycine dehydrogenase (decarboxylating), mitochondrial

glycine cleavage system protein P

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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