FAM190A is a 900 amino acid protein that exists as two alternatively spliced isoforms. The gene encoding FAM190A maps to human chromosome 4, which represents approximately 6% of the human genome and contains nearly 900 genes. Notably, the Huntingtin gene, which is found to encode an expanded glutamine tract in cases of Huntington's disease, is on chromosome 4. FGFR-3 is also encoded on chromosome 4 and has been associated with thanatophoric dwarfism, achondroplasia, Muenke syndrome and bladder cancer. Chromosome 4 is also tied to Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease. Chromosome 4 reportedly contains the largest gene deserts (regions of the genome with no protein encoding genes) and has one of the two lowest recombination frequencies of the human chromosomes. The MGC48628 gene product has been provisionally designated MGC48628 pending further characterization.
Similarity:
Belongs to the FAM190 family.
SWISS:
Q9C0I3
Gene ID:
401145
Database links:
Entrez Gene: 401145 Human
Entrez Gene: 26435 Mouse
Entrez Gene: 500153 Rat
SwissProt: Q9C0I3 Human
SwissProt: Q8C0C4 Mouse
Unigene: 654735 Human
Unigene: 150324 Mouse
Unigene: 214749 Rat
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