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Details of AHCY gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| AHCY | SAHH | P23526 | SAHH_HUMAN | 191 | ENSG00000101444 | Adenosylhomocysteinase | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]: A metabolic disorder characterized by hypermethioninemia associated with failure to thrive, mental and motor retardation, facial dysmorphism with abnormal hair and teeth, and myocardiopathy. Note=The disease is caused by mutations affecting the gene represented in this entry. | 613752 | ||||||||
Phenotypes
Abnormal facial shape, Abnormality of amino acid metabolism, Abnormality of aspartate family amino acid metabolism, Abnormality of body weight, Abnormality of carboxylic acid metabolism, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of methionine metabolism, Abnormality of skin adnexa, Abnormality of sulfur amino acid metabolism, Abnormality of the cardiovascular system, Abnormality of the central nervous system, Abnormality of the face, Abnormality of the hair, Abnormality of the head, Abnormality of the heart, Abnormality of the integument, Abnormality of the mouth, Abnormality of the myocardium, Abnormality of the nervous system, Abnormality of the oral cavity, Abnormality of the teeth, All, Autosomal recessive inheritance, Cardiomyopathy, Cognitive impairment, Decreased body weight, Failure to thrive, Global developmental delay, Growth abnormality, Hypermethioninemia, Malformation of the heart and great vessels, Mode of inheritance, Phenotypic abnormality.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Ahcy13 | ahcy-1 | Sp-Ahcy | |||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| AHCY | CAT | 0.029352125 | AHCY | CAT | cpx5 | no | no | no | Novel |
| LDHB | AHCY | 0.071719934 | LDHB | AHCY | cpx5 | no | no | no | Novel |
| ALDH4A1 | AHCY | 0.079014991 | ALDH4A1 | AHCY | cpx5 | no | no | no | Novel |