Adenosine deaminase deficiency

Gene Information

Names

HUGO name: ADA

Alias(es):

  • Adenosine deaminase
  • Adenosine aminohydrolase

Localization

Reference sequences

Chromosomal location

Maps

Protein Information

Description

Catalytic activity:

Adenosine + h(2)o = inosine + nh(3)

Polymorphism:

There is a common allele, ADA*2, also known as the ADA 2 allozyme

Expression

Expression pattern for human

Tissue Expression (%) Clones
T cells from T cell leukemia 41.02 12:2397
nasopharynx 12.68 1:646
blood, white cells 9.00 1:910
brain, hippocampus 6.46 1:1269
lymph, T-cell 4.82 5:8503
umbilical cord, endothelium 4.41 2:3718
ovary (pool of 3) 3.74 2:4380
thymus, pooled 2.59 1:3169
human optic nerve 1.86 1:4406
testis 1.80 19:86533

Animal models

Mouse: