GeneBe

ADH1C

alcohol dehydrogenase 1C (class I), gamma polypeptide, the group of Alcohol dehydrogenases

Basic information

Region (hg38): 4:99336497-99352746

Previous symbols: [ "ADH3" ]

Links

ENSG00000248144 ∙ NCBI:126 ∙ OMIM:103730 ∙ HGNC:251 ∙ Uniprot:P00326 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ADH1C gene.

  • not_specified (33 variants)
  • not_provided (10 variants)
  • Parkinson_disease,_late-onset (1 variants)
  • Alcohol_dependence (1 variants)
  • Parkinson_disease,_mitochondrial (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADH1C gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000669.5. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
1
clinvar
5
clinvar
1
clinvar
 7
missense
29
clinvar
4
clinvar
2
clinvar
 35
nonsense
1
clinvar
 1
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 31 9 3
Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Pathway
Retinol metabolism - Homo sapiens (human);Glycolysis / Gluconeogenesis - Homo sapiens (human);Fatty acid degradation - Homo sapiens (human);Metabolism of xenobiotics by cytochrome P450 - Homo sapiens (human);Drug metabolism - cytochrome P450 - Homo sapiens (human);Chemical carcinogenesis - Homo sapiens (human);Tyrosine metabolism - Homo sapiens (human);Abacavir Pathway, Pharmacokinetics/Pharmacodynamics;Cyclophosphamide Pathway, Pharmacodynamics;Ifosfamide Pathway, Pharmacodynamics;Fatty Acid Omega Oxidation;Amino Acid metabolism;Ethanol effects on histone modifications;Signal Transduction;Phase I - Functionalization of compounds;RA biosynthesis pathway;Ethanol oxidation;Biological oxidations;Metabolism;Signaling by Retinoic Acid;Signaling by Nuclear Receptors;Tyrosine metabolism (Consensus)

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
N
essential_gene_gene_trap
gene_indispensability_pred
gene_indispensability_score

Mouse Genome Informatics

Gene name
Adh1
Phenotype
growth/size/body region phenotype; homeostasis/metabolism phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);

Gene ontology

Biological process
ethanol oxidation;retinol metabolic process;retinoic acid metabolic process
Cellular component
nucleoplasm;cytosol;plasma membrane
Molecular function
alcohol dehydrogenase (NAD) activity;alcohol dehydrogenase activity, zinc-dependent;retinol dehydrogenase activity;zinc ion binding