FAM55D is a 544 amino acid secreted protein that is expressed as two isoforms due to alternative splicing events. The gene encoding FAM55D is located on chromosome 11. With approximately 135 million base pairs and 1,400 genes, chromosome 11 makes up around 4% of human genomic DNA and is considered a gene and disease association dense chromosome. The chromosome 11 encoded Atm gene is important for regulation of cell cycle arrest and apoptosis following double strand DNA breaks. Atm mutation leads to the disorder known as ataxia-telangiectasia. The blood disorders Sickle cell anemia and ∫ thalassemia are caused by HBB gene mutations. Wilms' tumors, WAGR syndrome and Denys-Drash syndrome are associated with mutations of the WT1 gene. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are also associated with defects in chromosome 11. The FAM55D gene product has been provisionally designated FAM55D pending further characterization.
Subcellular Location:
Secreted (Potential).
Similarity:
Belongs to the NXPE family.
SWISS:
Q6UWF7
Gene ID:
54827
Database links:
Entrez Gene: 54827 Human
Entrez Gene: 244853 Mouse
Entrez Gene: 500991 Rat
SwissProt: Q6UWF7 Human
SwissProt: Q52KP5 Mouse
SwissProt: Q5XI89 Rat
Unigene: 179100 Human
Unigene: 325522 Mouse
Unigene: 29872 Rat
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