AHCY |
- 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(Read more about gnomAD pLI score)
- LOEUF
- 0.73(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
ClinGen Curation ID:
CCID:006638
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)