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SLC45A2 solute carrier family 45, member 2 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001012509 Homo sapiens solute carrier family 45, member 2 (SLC45A2), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $699.00 18
NM_001297417 Homo sapiens solute carrier family 45, member 2 (SLC45A2), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $399.00 14
NM_016180 Homo sapiens solute carrier family 45, member 2 (SLC45A2), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $699.00 18

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Gene Symbol SLC45A2
Entrez Gene ID 51151
Full Name solute carrier family 45, member 2
Synonyms 1A1, AIM1, MATP, OCA4, SHEP5
General protein information
Preferred Names
membrane-associated transporter protein
Names
membrane-associated transporter protein
underwhite
protein AIM-1
melanoma antigen AIM1
membrane associated transporter
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

5

5p13.2

Summary 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. [provided by RefSeq, Mar 2009].
Disorder

MIM: 606202

Oculocutaneous albinism, type IV, 606574 (3); [Skin/hair/eye

mRNA Protein Product Sequence Price Select
NM_001012509, 224994180 NP_001012527, 61636000 membrane-associated transporter protein isoform b ORF Sequence $550.00
NM_001297417, 661902995 NP_001284346, 661902996 membrane-associated transporter protein isoform c ORF Sequence $250.00
NM_016180, 61635914 NP_057264, 61635915 membrane-associated transporter protein isoform a ORF Sequence $550.00
Homo sapiens (human)SLC45A2NP_057264.3
Pan troglodytes (chimpanzee)SLC45A2XP_526962.2
Macaca mulatta (Rhesus monkey)SLC45A2XP_002804382.1
Canis lupus familiaris (dog)SLC45A2NP_001033036.1
Bos taurus (cattle)SLC45A2XP_002696433.2
Mus musculus (house mouse)Slc45a2NP_444307.1
Rattus norvegicus (Norway rat)Slc45a2NP_001101123.1
Gallus gallus (chicken)SLC45A2NP_001076833.1
Danio rerio (zebrafish)slc45a2NP_001103847.1
Xenopus (Silurana) tropicalis (western clawed frog)slc45a2NP_001011335.1
Process
IDNameEvidence
GO:0007601visual perceptionIEA
GO:0042438melanin biosynthetic processIEA
GO:0048066developmental pigmentationIEA
GO:0050896response to stimulusIEA
Component
IDNameEvidence
GO:0016021integral component of membraneIEA
GO:0033162melanosome membraneIEA
GeneCards SLC45A2
UniProt D6RGY6, Q9UMX9
Vega OTTHUMG00000090719
MIM 606202
Ensembl ENSG00000164175
HGNC 16472
HPRD 05865

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the SLC45A2 gene?

The SLC45A2 gene (also called MATP) provides instructions for making a protein that is located in specialized cells called melanocytes. These cells produce a pigment called melanin, which is the substance that gives skin, hair, and eyes their color. Melanin is also found in the light-sensitive tissue at the back of the eye (the retina), where it plays a role in normal vision.

Although the exact function of the SLC45A2 protein is unknown, it is likely involved in the production of melanin. This protein probably transports molecules necessary for the normal function of melanosomes, which are the structures in melanocytes where melanin is produced. Studies suggest that certain common variations (polymorphisms) in the SLC45A2 gene may be associated with normal differences in skin, hair, and eye coloring.

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