GCDH (glutaryl-CoA dehydrogenase)

2014-11-01  

Identity

HGNC
GCDH
LOCATION
19p13.13
LOCUSID
2639
ALIAS
ACAD5,GCD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2639
MIM: 608801
HGNC: 4189
Ensembl: ENSG00000105607

Variants:

dbSNP: 2639
ClinVar: 2639
TCGA: ENSG00000105607
COSMIC: GCDH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000105607ENST00000222214Q92947
ENSG00000105607ENST00000222214A0A024R7F9
ENSG00000105607ENST00000587072K7ES74
ENSG00000105607ENST00000588905K7EKT3
ENSG00000105607ENST00000589039K7EKH1
ENSG00000105607ENST00000590445K7ER63
ENSG00000105607ENST00000590472K7ESA6
ENSG00000105607ENST00000590530K7ERX1
ENSG00000105607ENST00000591050K7EQ99
ENSG00000105607ENST00000591470Q92947
ENSG00000105607ENST00000591470A0A024R7F9

Expression (GTEx)

0
5
10
15
20
25
30
35
40
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Fatty acid degradationKEGGko00071
Lysine degradationKEGGko00310
Tryptophan metabolismKEGGko00380
Fatty acid degradationKEGGhsa00071
Lysine degradationKEGGhsa00310
Tryptophan metabolismKEGGhsa00380
Metabolic pathwaysKEGGhsa01100
Lysine degradation, lysine => saccharopine => acetoacetyl-CoAKEGGhsa_M00032
Lysine degradation, lysine => saccharopine => acetoacetyl-CoAKEGGM00032
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Lysine catabolismREACTOMER-HSA-71064
Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolismREACTOMER-HSA-6788656

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
369067242023Two novel compound heterozygous variants of the GCDH gene in two Chinese families with glutaric acidaemia type I identified by high-throughput sequencing and a literature review.1
374960922023Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China.1
369067242023Two novel compound heterozygous variants of the GCDH gene in two Chinese families with glutaric acidaemia type I identified by high-throughput sequencing and a literature review.1
374960922023Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China.1
356620162022Identification of novel pathogenic variants in the GCDH gene and assessment of neurodevelopmental outcomes in 24 children with glutaric aciduria type 1.0
356620162022Identification of novel pathogenic variants in the GCDH gene and assessment of neurodevelopmental outcomes in 24 children with glutaric aciduria type 1.0
330642662021Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene.3
339653092021The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery.14
330642662021Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene.3
339653092021The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery.14
314915872020Potential complementation effects of two disease-associated mutations in tetrameric glutaryl-CoA dehydrogenase is due to inter subunit stability-activity counterbalance.4
322404882020Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene.6
329927902020Functional Recovery of a GCDH Variant Associated to Severe Deflavinylation-Molecular Insights into Potential Beneficial Effects of Riboflavin Supplementation in Glutaric Aciduria-Type I Patients.1
330695772020Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades.14
314915872020Potential complementation effects of two disease-associated mutations in tetrameric glutaryl-CoA dehydrogenase is due to inter subunit stability-activity counterbalance.4

Citation

Dessen P

GCDH (glutaryl-CoA dehydrogenase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63733