MBLAC2 is a 279 amino acid protein that belongs to the glyoxalase II family and metallo-β-lactamase superfamily. Existing as two alternatively spliced isoforms, MBLAC2 binds two zinc ions and is encoded by a gene that maps to human chromosome 5q14.3. Chromosome 5 contains 181 million base pairs and comprises nearly 6% of the human genome. Chromosome 5 is associated with Cockayne syndrome through the ERCC8 gene and familial adenomatous polyposis through the adenomatous polyposis coli (APC) tumor suppressor gene. Treacher Collins syndrome is also chromosome 5-associated and is caused by insertions or deletions within the TCOF1 gene. Deletion of the p arm of chromosome 5 leads to Cri du chat syndrome, while deletion of the q arm or of chromosome 5 altogether is common in therapy-related acute myelogenous leukemias and myelodysplastic syndrome.
Similarity:
Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family.
SWISS:
Q68D91
Gene ID:
153364
Database links:
Entrez Gene: 153364 Human
SwissProt: Q68D91 Human
Unigene: 12804 Human
|
|
