AMPD3
Identifiers
AliasesAMPD3, adenosine monophosphate deaminase 3
External IDsOMIM: 102772 MGI: 1096344 HomoloGene: 408 GeneCards: AMPD3
Orthologs
SpeciesHumanMouse
Entrez

272

11717

Ensembl

ENSG00000133805

ENSMUSG00000005686

UniProt

Q01432

O08739

RefSeq (mRNA)

NM_001172431
NM_000480
NM_001025389
NM_001025390
NM_001172430

NM_001276301
NM_009667
NM_001372439
NM_001372441

RefSeq (protein)

NP_000471
NP_001020560
NP_001020561
NP_001165901
NP_001165902

NP_001263230
NP_033797
NP_001359368
NP_001359370

Location (UCSC)Chr 11: 10.31 – 10.51 MbChr 7: 110.37 – 110.41 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

AMP deaminase 3 is an enzyme that in humans is encoded by the AMPD3 gene.[5][6]

This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described.[6]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000133805 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000005686 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Mahnke-Zizelman DK, Sabina RL (October 1992). "Cloning of human AMP deaminase isoform E cDNAs. Evidence for a third AMPD gene exhibiting alternatively spliced 5'-exons". The Journal of Biological Chemistry. 267 (29): 20866–77. doi:10.1016/S0021-9258(19)36768-7. PMID 1400401.
  6. 1 2 "Entrez Gene: AMPD3 adenosine monophosphate deaminase (isoform E)".

Further reading

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