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SLC45A2 encodes a transporter protein that mediates melanin synthesis. Zusätzlich bieten wir Ihnen SLC45A2 Antikörper (31) und SLC45A2 Proteine (3) und viele weitere Produktgruppen zu diesem Protein an.
To gain understanding of the role of Slc45a2 and its possible interactions with other proteins involved in melanization, the role of the V-ATPase (zeige ATP6V1H ELISA Kits) as a melanosomal acidifier, was analyzed.
Zebrafish albino fish are mutant in slc45a2; wild-type slc45a2 mRNA rescued the albino mutant phenotype.
Data indicate AIM1 (absent in melanoma 1 (zeige AIM1 ELISA Kits)) as an actin binding protein and show that it regulates cytoskeletal remodeling and cell migration in prostate epithelial cells.
Mutation in MATP gene expression is associated with Oculocutaneous albinism type IV.
All affected members showed a novel heterozygous variant, c.208T>C (p.Y70H), in the SLC45A2 gene, which supported a diagnosis of OCA4.
Our analysis revealed 10 sun-exposure-dependent gene expression quantitative trait loci (se-eQTLs), including genes involved in skin pigmentation (SLC45A2) and epidermal differentiation (RASSF9 (zeige RASSF9 ELISA Kits)).
We identitified a single missense substitution in SLC45A2 in 13 families with oculocutaneous albinism.
The reduction of tyrosinase (zeige TYR ELISA Kits) activity associated with the knockdown of MATP.
The results indicated that the D93N mutation causes OCA4 as a result of loss of MATP transport activity, and that the F374 allele confers significantly lower transport activity than L374.
we propose that natural selection in South Europeans is favoring the allele SLC45A2 374F.
High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene.
Results show that almost all the African populations located below 16 degrees of latitude are fixed for the 374l allele of SLC45A2 gene.
mRNA expression of SLC45A2 in eyes and skin and of SLC45A3 primarily in the prostate, but also in other tissues, whereas SLC45A4 showed a predominantly ubiquitous expression
This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines. Mutations in this gene are a cause of oculocutaneous albinism type 4, and polymorphisms in this gene are associated with variations in skin and hair color. Multiple transcript variants encoding different isoforms have been found for this gene.
solute carrier family 45, member 2
, membrane-associated transporter protein
, membrane associated transporter protein
, absent in melanoma 1
, membrane-associated transporter protein-like
, melanoma antigen AIM1
, membrane associated transporter
, protein AIM-1
, B/AIM-1-like protein
, dominant brown
, protein underwhite
, Membrane-associated transporter protein