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MGP000050

Record overview

MGPD IDMGP000050
Gene ID100
SpeciesHomo sapiens (Human)
Gene Nameadenosine deaminase
Gene Symbol ADA
Alternate namesadenosine deaminase; adenosine aminohydrolase;
Chromosome20
Map Location20q13.12
EC Number3.5.4.4
SummaryThis gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine. Various mutations have been described for this gene and have been linked to human diseases. Deficiency in this enzyme causes a form of severe combined immunodeficiency disease (SCID), in which there is dysfunction of both B and T lymphocytes with impaired cellular immunity and decreased production of immunoglobulins, whereas elevated levels of this enzyme have been associated with congenital hemolytic anemia. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for ADA

Proteins

adenosine deaminase
Refseq ID:NP_000013
Protein GI:47078295
UniProt ID:P00813
mRNA ID:NM_000022
Length:363
RefSeq Status:
MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIKRIAYEFVEMKAKEGVVYVEV
RYSPHLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPNWSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQA
YQEAVKSGIHRTVHAGEVGSAEVVKEAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIF
KSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAGQNL
 
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