Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0002871 (
anemia
)
52,094
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Protein 4.2 (
P4.2
) comprises approximately 5% of the protein mass of human erythrocyte (RBC) membranes.
Anemia
occurs in patients with RBCs deficient in
P4.2
, suggesting a role for this protein in maintaining RBC stability and integrity. We now report the molecular cloning and characterization of human RBC
P4.2
cDNAs. By immunoscreening a human reticulocyte cDNA library and by using the polymerase chain reaction, two cDNA sequences of 2.4 and 2.5 kilobases (kb) were obtained. These cDNAs differ only by a 90-base-pair insert in the longer isoform located three codons downstream from the putative initiation site. The 2.4- and 2.5-kb cDNAs predict proteins of approximately 77 and approximately 80 kDa, respectively, and the authenticity was confirmed by sequence identity with 46 amino acids of three cyanogen bromide-cleaved peptides of
P4.2
. Northern blot analysis detected a major 2.4-kb RNA species in reticulocytes. Isolation of two
P4.2
cDNAs implies existence of specific regulation of
P4.2
expression in human RBCs. Human RBC
P4.2
has significant homology with human factor XIII subunit a and guinea pig liver transglutaminase. Sequence alignment of
P4.2
with these two transglutaminases, however, revealed that
P4.2
lacks the critical cysteine residue required for the enzymatic crosslinking of substrates.
...
PMID:Molecular cloning of human protein 4.2: a major component of the erythrocyte membrane. 168 63
