full name
adenosine monophosphate deaminase 1

synonyms
MAD, MADA, AMPD1, ENSG00000116748

HGNC
HGNC:468

Entrez Gene
Gene:270

ENSEMBL
ENSG00000116748

location
chr: 1
start: 115215719
stop: 115238239
strand: -

OMIM
OMIM:102770: AMPD1 (Autosomal dominant inheritance)
OMIM:615511: Myopathy due to myoadenylate deaminase deficiency

transcripts
NM_001172626.1
NM_000036.2

pathways
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of nucleotides [NCBI:1270133] [REACTOME:R-HSA-15869] [PUBMED:17266529] [PUBMED:8283301] [PUBMED:20494131]
Purine metabolism [NCBI:82944] [KEGG:hsa00230] [NCBI:1270134] [REACTOME:R-HSA-73847] [PUBMED:4620886] [PUBMED:10986234] [PUBMED:10601204]
Purine salvage [NCBI:1270136] [REACTOME:R-HSA-74217] [PUBMED:4620886]