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

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

rs121908718 in PKIG;ADA gene and SCID Due to ADA Deficiency, Early-Onset 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 9361033 1997 An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity.

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

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

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

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

PMID 7599635 1995 Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice site.

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 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 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 2166947 1990 Hot spot mutations in adenosine deaminase deficiency.

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

PMID 9108404 1997 Adenosine deaminase deficiency in adults.

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

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

PMID 1680289 1991 Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID).

PMID 8258146 1993 Severe combined immunodeficiency of reduced severity due to homozygosity for an adenosine deaminase missense mutation (Arg253Pro).

PMID 8051429 1994 Adult onset immunodeficiency caused by inherited adenosine deaminase deficiency.

PMID 20544538 2010 Determination of adenosine deaminase activity in dried blood spots by a nonradiochemical assay using reversed-phase high-performance liquid chromatography.

PMID 28266921 2019 Clinical, Laboratory, and Molecular Findings for 63 Patients With Severe Combined Immunodeficiency: A Decade´s Experience.

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

PMID 11313286 2001 T-cell lines from 2 patients with adenosine deaminase (ADA) deficiency showed the restoration of ADA activity resulted from the reversion of an inherited mutation.

PMID 11160213 2001 Molecular basis for paradoxical carriers of adenosine deaminase (ADA) deficiency that show extremely low levels of ADA activity in peripheral blood cells without immunodeficiency.

PMID 14499267 2003 Genotype is an important determinant of phenotype in adenosine deaminase deficiency.