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SLC45A2 encodes a transporter protein that mediates melanin synthesis. Additionally we are shipping SLC45A2 Proteins (3) and many more products for this protein.
Showing 10 out of 31 products:
Human Monoclonal SLC45A2 Primary Antibody for ELISA, WB - ABIN565543
Bin, Bhin, Yang, Shin, Nam, Choi, Shin, Lee, Hwang, Cho, Lee: Membrane-Associated Transporter Protein (MATP) Regulates Melanosomal pH and Influences Tyrosinase Activity. in PLoS ONE 2015
To gain understanding of the role of Slc45a2 and its possible interactions with other proteins involved in melanization, the role of the V-ATPase (show ATP6V1H Antibodies) as a melanosomal acidifier, was analyzed.
Zebrafish albino fish are mutant in slc45a2; wild-type slc45a2 mRNA rescued the albino mutant phenotype.
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 (show RASSF9 Antibodies)).
We identitified a single missense substitution in SLC45A2 in 13 families with oculocutaneous albinism.
The reduction of tyrosinase (show TYR Antibodies) 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.
molecular defects in SLC45A2 gene represent the 3.4% of people with oculocutaneous albinism in this cohort of Italian patients, similar to other Caucasian populations
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