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  2. AHCY - adenosylhomocysteinase Gene

AHCY - adenosylhomocysteinase Gene

Homo sapiens

Also known as SAHH; adoHcyase

Gene ID: 191 | Gene type: protein coding

About AHCY

Cytogenetic location: 20q11.22 Genomic coordinates (GRCh38): 20:34,231,981-34,311,836 (from NCBI)

This gene has 6 transcripts (splice variants), 218 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in kidney (RPKM 29.2), thyroid (RPKM 22.9) and 25 other tissues.

Summary

S-adenosylhomocysteine hydrolase belongs to the adenosylhomocysteinase family. It catalyzes the reversible hydrolysis of S-adenosylhomocysteine (AdoHcy) to adenosine (Ado) and L-homocysteine (Hcy). Thus, it regulates the intracellular S-adenosylhomocysteine (SAH) concentration thought to be important for transmethylation reactions. Deficiency in this protein is one of the different causes of hypermethioninemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]

AHCY Products(6)

mRNA Protein Name
NM_000687.4 NP_000678.1 adenosylhomocysteinase isoform 1
NM_001161766.2 NP_001155238.1 adenosylhomocysteinase isoform 2
NM_001322084.2 NP_001309013.1 adenosylhomocysteinase isoform 2
NM_001322085.2 NP_001309014.1 adenosylhomocysteinase isoform 2
NM_001322086.2 NP_001309015.1 adenosylhomocysteinase isoform 3
NM_001362750.2 NP_001349679.1 adenosylhomocysteinase isoform 1

AHCY Protein Structure

AdoHcyase

AdoHcyase: S-adenosyl-L-homocysteine hydrolase (7 - 431)

AdoHcyase_NAD

AdoHcyase_NAD: S-adenosyl-L-homocysteine hydrolase, NAD binding domain (191 - 352)

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  • 432 a.a.
Protein Preferred Names Protein Names

adenosylhomocysteinase

S-adenosyl-L-homocysteine hydrolase

Recombinant AHCY Proteins

Cat. No. Product Name Accession Purity
HY-P72073 AHCY Protein, Human (His-SUMO) P23526 (S2-Y432) ≥95%
HY-P72074 AICDA Protein, Mouse (His-Myc) Q9WVE0 (M1-F198) ≥95%

Related Diseases

Diseases Alias
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency

Hypermethioninemia With Deficiency Of S-Adenosylhomocysteine Hydrolase

Hypermethioninemia Due To S-Adenosylhomocysteine Hydrolase Deficiency

Psychomotor Retardation Due To S-Adenosylhomocysteine Hydrolase Deficiency

Psychomotor Delay Due To S-Adenosylhomocysteine Hydrolase Deficiency

HMAHCHD

Hypermethioninemia

Hepatic Methionine Adenosyltransferase Deficiency

Deficiency Of Methionine Adenosyltransferase

Glycine N-Methyltransferase Deficiency

Met

S-Adenosylhomocysteine Hydrolase Deficiency

Gnmt Deficiency

Mat Deficiency

Methionine Adenosyltransferase Deficiency

Methioninemia

Deficiency Of Acetyl-Coa Acetyltransferase

Endometrial Cancer

Endometrial Carcinoma

Endometrial Neoplasm

Malignant Neoplasm Of Endometrium

Endometrioid Carcinoma

Endometrial Neoplasms

Carcinoma, Endometrioid

Endometrial Cancer, Familial

Endometrial Carcinoma, Somatic

Endometrial Cancer, Susceptibility To

Endometrial Ca

Malignant Endometrial Neoplasm

Neoplasm Of Endometrium

Primary Malignant Neoplasm Of Endometrium

Tumor Of Endometrium

Carcinoma Of The Endometrium

Endometrioid Carcinoma Of Female Reproductive System

ENDMC

Carcinoma Endometrioid

Endometrial Cancers

Cancer, Endometrial

Uterine Corpus Cancer

Hyperhomocysteinemia
Adenosine Deaminase Deficiency

Ada Deficiency

Ada-Scid

Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency

Adenosine Deaminase Deficient Severe Combined Immunodeficiency

Scid Due To Ada Deficiency

Severe Combined Immunodeficiency Due To Ada Deficiency

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency

Ada

Scid Due To Adenosine Deaminase Deficiency

Copper Deficiency Myelopathy

Swayback

Human Swayback

Glycine N-Methyltransferase Deficiency

GNMT DEFICIENCY

Hypermethioninemia Due To Glycine N-Methyltransferase Deficiency

Hypermethioninemia Due To Gnmt Deficiency

Hypermethioninemia

Hepatic Methionine Adenosyltransferase Deficiency

Purine Nucleoside Phosphorylase Deficiency

Purine-Nucleoside Phosphorylase Deficiency

Pnp Deficiency

Nucleoside Phosphorylase Deficiency

Immunodeficiency Due To Purine Nucleoside Phosphorylase Deficiency

Deficiency Of Inosine Phosphorylase

Pnpase Deficiency

PNPD

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency

Congenital Combined Immunodeficiency

Syndrome With Combined Immunodeficiency

Combined T And B Cell Immunodeficiency

Combined Immunity Deficiency

Combined Immunodeficiency Syndrome

Combined T-Cell And B-Cell Immunodeficiency

Lymphopenic Agammaglobulinaemia

Alkaptonuria

Homogentisic Acid Oxidase Deficiency

Alcaptonuria

AKU

Deficiency Of Homogentisicase

Homogentisate 1,2-Dioxygenase Deficiency

Alkaptonuric Ochronosis

Homogentisic Acidura

Ochronosis, Hereditary

Hereditary Ochronosis

Ochronosis

Homogentisicaciduria

Deficiency Of Homogentisate Oxygenase

Tyrosinemia, Type I

Tyrosinemia Type I

Hepatorenal Tyrosinemia

Fumarylacetoacetase Deficiency

Fah Deficiency

TYRSN1

Fumarylacetoacetate Hydrolase Deficiency

Tyrosinemia Type 1

Tyrosinemia 1

Fumarylacetoacetase

Glycogen Storage Disease

Glycogenosis

Glycogenoses

Gsd

Storage Disease, Glycogen

Gsd - [Glycogen Storage Disease]

Glycogen Thesaurismosis

Diffuse Glycogenosis

Generalised Glycogen Storage Disease

Generalised Glycogenosis

Generalised Glycogen Storage Disease Of Infants

Glycogen Synthase Deficiency

Purine-Pyrimidine Metabolic Disorder

Inborn Errors Of Purine-Pyrimidine Metabolism

Disorder Of Purine Or Pyrimidine Metabolism

Severe Combined Immunodeficiency

Scid

Severe Combined Immunodeficiency Disease

Combined T And B Cell Inborn Immunodeficiency

Immunodeficiency, Severe Combined

Scid - [Severe Combined Immunodeficiencies]

Amino Acid Metabolic Disorder

Amino Acid Metabolism, Inborn Errors

Inborn Errors Of Amino Acid Metabolism

Disorder Of Amino Acid Metabolism

Amino Acid Metabolism Disorders

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus AHCY VGNC VGNC:79986
Macaca mulatta AHCY VGNC VGNC:84541
Mus musculus AHCY MGD MGI:87968
Bos taurus AHCY VGNC VGNC:25750
Rattus norvegicus AHCY RGD RGD:69260
Canis familiaris AHCY VGNC VGNC:37724
Others AHCY NCBI