Gene: PMEL

Alternate names for this Gene: D12S53E|ME20|ME20-M|ME20M|P1|P100|PMEL17|SI|SIL|SILV|gp100

Gene Summary: This gene encodes a melanocyte-specific type I transmembrane glycoprotein. The encoded protein is enriched in melanosomes, which are the melanin-producing organelles in melanocytes, and plays an essential role in the structural organization of premelanosomes. This protein is involved in generating internal matrix fibers that define the transition from Stage I to Stage II melanosomes. This protein undergoes a complex pattern of prosttranslational processing and modification that is essential to the proper functioning of the protein. A secreted form of this protein that is released by proteolytic ectodomain shedding may be used as a melanoma-specific serum marker. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.2

Description of this Gene: premelanosome protein

Type of Gene: protein-coding

Gene: CDK2

Alternate names for this Gene: CDKN2|p33(CDK2)

Gene Summary: This gene encodes a member of a family of serine/threonine protein kinases that participate in cell cycle regulation. The encoded protein is the catalytic subunit of the cyclin-dependent protein kinase complex, which regulates progression through the cell cycle. Activity of this protein is especially critical during the G1 to S phase transition. This protein associates with and regulated by other subunits of the complex including cyclin A or E, CDK inhibitor p21Cip1 (CDKN1A), and p27Kip1 (CDKN1B). Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.2

Description of this Gene: cyclin dependent kinase 2

Type of Gene: protein-coding