Gene: ADA

Alternate names for this Gene: ADA1

Gene Summary: This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine in the purine catabolic pathway. Various mutations have been described for this gene and have been linked to human diseases related to impaired immune function such as severe combined immunodeficiency disease (SCID) which is the result of a deficiency in the ADA enzyme. In ADA-deficient individuals there is a marked depletion of T, B, and NK lymphocytes, and consequently, a lack of both humoral and cellular immunity. Conversely, elevated levels of this enzyme are associated with congenital hemolytic anemia.

Gene is located in Chromosome: 20

Location in Chromosome : 20q13.12

Description of this Gene: adenosine deaminase

Type of Gene: protein-coding

Gene: PKIG

Alternate names for this Gene: PKI-gamma

Gene Summary: This gene encodes a member of the protein kinase inhibitor family. Studies of a similar protein in mice suggest that this protein acts as a potent competitive cAMP-dependent protein kinase inhibitor, and is a predominant form of inhibitor in various tissues. The encoded protein may be involved in osteogenesis. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 20

Location in Chromosome : 20q13.12

Description of this Gene: cAMP-dependent protein kinase inhibitor gamma

Type of Gene: protein-coding

rs121908715 in ADA;PKIG gene and SCID Due to ADA Deficiency, Early-Onset PMID 7599635 1995 Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice site.

PMID 1346349 1992 Five missense mutations at the adenosine deaminase locus (ADA) detected by altered restriction fragments and their frequency in ADA--patients with severe combined immunodeficiency (ADA-SCID).

PMID 26376800 2015 Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience.

PMID 8227344 1993 Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype.

PMID 2773932 1989 A high proportion of ADA point mutations associated with a specific alanine-to-valine substitution.

PMID 2783588 1989 Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency.

PMID 10200056 1998 Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del. Mutations in brief no. 142. Online.

PMID 9758612 1998 Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.

PMID 8299233 1994 Homozygosity for a missense mutation (G20R) associated with neonatal onset adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID).

PMID 9361033 1997 An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity.

PMID 8614422 1996 Brief report: hepatic dysfunction as a complication of adenosine deaminase deficiency.

PMID 6208479 1984 Structure of adenosine deaminase mRNAs from normal and adenosine deaminase-deficient human cell lines.

PMID 3475710 1987 Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing.

PMID 2166947 1990 Hot spot mutations in adenosine deaminase deficiency.

PMID 3182793 1988 Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts.

PMID 1284479 1992 Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for response to therapy with partial exchange transfusions.

PMID 3839802 1985 Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency.

PMID 26255240 2015 Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities.

PMID 1974554 1990 Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency.

PMID 16276484 2005 Reduced thymic output, increased spontaneous apoptosis and oligoclonal B cells in polyethylene glycol-adenosine deaminase-treated patients.

PMID 9414266 1998 Successful peripheral T-lymphocyte-directed gene transfer for a patient with severe combined immune deficiency caused by adenosine deaminase deficiency.

PMID 19179314 2009 Gene therapy for immunodeficiency due to adenosine deaminase deficiency.

PMID 27095930 2016 Combined immunodeficiencies: twenty years experience from a single center in Turkey.

PMID 17185467 2007 Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications.

PMID 8401541 1993 Two new mutations at the adenosine deaminase (ADA) locus (Q254X and del nt1050-54) unusual for not being missense mutations.

PMID 27129325 2016 Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency.

PMID 23260757 2013 Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy.

PMID 21624848 2011 Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.

PMID 7554472 1995 Adenosine deaminase deficiency: molecular basis and recent developments.

rs751635016 in ADA;PKIG gene and Severe Combined Immunodeficiency PMID 19179314 2009 Gene therapy for immunodeficiency due to adenosine deaminase deficiency.