Home
>
Product
>
Antibody
>
Rabbit Anti-C7orf42 antibody
Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterized by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia. The C7orf42 gene product has been provisionally designated C7orf42 pending further characterization.
Subcellular Location:
Membrane; Multi-pass membrane protein (Potential).
Similarity:
Belongs to the TMEM248 family.
SWISS:
Q9NWD8
Gene ID:
55069
Database links:
Entrez Gene: 55069 Human
Entrez Gene: 71667 Mouse
Entrez Gene: 288616 Rat
SwissProt: Q9NWD8 Human
SwissProt: Q3TBN1 Mouse
SwissProt: Q6AY76 Rat
Unigene: 488478 Human
|
|