What protein does SLC45A2 make?
Membrane-associated transporter protein (MATP), also known as solute carrier family 45 member 2 (SLC45A2) or melanoma antigen AIM1, is a protein that in humans is encoded by the SLC45A2 gene….Membrane-associated transporter protein.
| SLC45A2 | ||
|---|---|---|
| Species | Human | Mouse |
| Entrez | 51151 | 22293 |
| Ensembl | ENSG00000281919 ENSG00000164175 | ENSMUSG00000022243 |
| UniProt | Q9UMX9 | P58355 |
What does SLC45A2 stand for?
Solute Carrier Family 45 Member 2
SLC45A2 (Solute Carrier Family 45 Member 2) is a Protein Coding gene. Diseases associated with SLC45A2 include Albinism, Oculocutaneous, Type Iv and Skin/Hair/Eye Pigmentation, Variation In, 5. Among its related pathways are Melanin biosynthesis and Regulation of expression of SLITs and ROBOs.
What does HERC2 stand for?
HERC2 (HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase 2) is a Protein Coding gene. Diseases associated with HERC2 include Intellectual Developmental Disorder, Autosomal Recessive 38 and Skin/Hair/Eye Pigmentation, Variation In, 1.
What gene controls redheads?
MC1R
It had been thought that red hair is controlled by a single gene, called MC1R. The new research sheds light on other genes that are involved. Previous studies had shown that redheads inherit two versions of the MC1R gene that leads to red hair – one from their mum and one from their dad.
What protein does OCA2 produce?
the P protein
The OCA2 gene (formerly called the P gene) provides instructions for making a protein called the P protein. This protein is located in melanocytes, which are specialized cells that produce a pigment called melanin. Melanin is the substance that gives skin, hair, and eyes their color.
How does the OCA2 gene affect eye color?
Several common variations (polymorphisms) in the OCA2 gene reduce the amount of functional P protein that is produced. Less P protein means that less melanin is present in the iris, leading to blue eyes instead of brown in people with a polymorphism in this gene.
What is HERC2 and OCA2?
Abstract. The OCA2-HERC2 locus is responsible for the greatest proportion of eye color variation in humans. Numerous studies extensively described both functional SNPs and associated patterns of variation over this region.
What is HERC2 gene mutation?
Does everyone have the MC1R gene?
Redheads don’t have a special gene all of their own. We all have the gene that is linked most strongly to red hair, MC1R. It is just that most red haired people have different versions of this gene compared to people without red hair.
Do redheads have more health issues?
About 1–2% of people of European origin have red hair. Especially female redheads are known to suffer higher pain sensitivity and higher incidence of some disorders, including skin cancer, Parkinson’s disease and endometriosis.
Do redheads have a higher pain tolerance?
Research has produced evidence that redheads are less sensitive to stinging pain in the skin. This was shown in tests where capsaicin, the active substance in chilli, was injected into the skin to produce pain. “Our tests showed that redheads are less sensitive to this particular type of pain.
What is [SLC45A2] gene?
Slc45a2 solute carrier family 45, member 2 [ (house mouse)] Gene provides a unified query environment for genes defined by sequence and/or in NCBI’s Map Viewer. Slc45a2 solute carrier family 45, member 2 [ (house mouse)]
Does SLC45A2 protein stability determine melanocyte pigmentation?
SLC45A2 protein stability and regulation of melanosome pH determine melanocyte pigmentation. A novel deletion mutation c.579delG [p. (Gly194Valfs*7)] in the SLC45A2 gene, predicted to be pathogenic and to result in both frameshift and premature termination of the MATP chain, was identified in a family.
Are albino fish mutant in SLC45A2?
Zebrafish albino fish are mutant in slc45a2; wild-type slc45a2 mRNA rescued the albino mutant phenotype.