• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
AHCY (HGNC:343) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
adenosylhomocysteinase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
SAHH, AdoHcyase
%HI
18.88(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.04(Read more about gnomAD pLI score)
LOEUF
0.62(Read more about gnomAD LOEUF score)
Cytoband
20q11.22
Genomic Coordinates
GRCh37/hg19: chr20:32868074-32899608 NCBI Ensembl UCSC
GRCh38/hg38: chr20:34231981-34311836 NCBI Ensembl UCSC
MANE Select Transcript
NM_000687.4 ENST00000217426.7 (Read more about MANE Select)
Function
Catalyzes the hydrolysis of S-adenosyl-L-homocysteine to form adenosine and homocysteine (PubMed:10933798). Binds copper ions (By similarity). {ECO:0000250|UniProtKB:P50247, ECO:0000269|PubMed:10933798}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-14564
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
06/08/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase Monarch

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000020.10) (NC_000020.11)