SLC45A2
Encyclopedia
Membrane-associated transporter protein 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
.
synthesis. SLC45A2 is also a melanocyte
differentiation antigen that is expressed in a high percentage of melanoma
cell lines. A similar sequence gene in medaka, 'B,' encodes a transporter that mediates melanin synthesis. Mutations in this gene are a cause of oculocutaneous albinism
type 4. Alternative splicing results in multiple transcript variants encoding different isoforms.
In melanocytic cell types, the SLC45A2 gene is regulated by microphthalmia-associated transcription factor
.
SLC45A2 has been identified as a factor in the light skin of Europeans and as an ancestry-informative marker
(AIM) for determining Sri Lankan from European ancestry.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the SLC45A2 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Function
SLC45A2 is a transporter protein that mediates melaninMelanin
Melanin is a pigment that is ubiquitous in nature, being found in most organisms . In animals melanin pigments are derivatives of the amino acid tyrosine. The most common form of biological melanin is eumelanin, a brown-black polymer of dihydroxyindole carboxylic acids, and their reduced forms...
synthesis. SLC45A2 is also a melanocyte
Melanocyte
-External links: - "Eye: fovea, RPE" - "Integument: pigmented skin"...
differentiation antigen that is expressed in a high percentage of melanoma
Melanoma
Melanoma is a malignant tumor of melanocytes. Melanocytes are cells that produce the dark pigment, melanin, which is responsible for the color of skin. They predominantly occur in skin, but are also found in other parts of the body, including the bowel and the eye...
cell lines. A similar sequence gene in medaka, 'B,' encodes a transporter that mediates melanin synthesis. Mutations in this gene are a cause of oculocutaneous albinism
Oculocutaneous albinism
Oculocutaneous albinism is a form of albinism involving the eyes , skin , and in rare instances, the hair as well.Four types of oculocutaneous albinism have been described, all caused by a disruption of melanin synthesis and all autosomal recessive disorders.Common Albinism requires genes from both...
type 4. Alternative splicing results in multiple transcript variants encoding different isoforms.
In melanocytic cell types, the SLC45A2 gene is regulated by microphthalmia-associated transcription factor
Microphthalmia-associated transcription factor
Microphthalmia-associated transcription factor is a basic helix-loop-helix leucine zipper transcription factor involved in melanocyte and osteoclast development.-Clinical significance:...
.
SLC45A2 has been identified as a factor in the light skin of Europeans and as an ancestry-informative marker
Ancestry-informative marker
An ancestry-informative marker is a set of polymorphisms for a locus, generally from humans, which exhibits substantially different frequencies between populations from different geographical regions....
(AIM) for determining Sri Lankan from European ancestry.