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Gene : PMEL Homo sapiens

Name  ? premelanosome protein Cytological Location  12q13.2
Brief Description  premelanosome protein
description  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. [provided by RefSeq, Jan 2011]
  • synonyms:
  • SIL,
  • NM_006928,
  • silver homolog (mouse),
  • SILV,
  • D12S53E,
  • AK092881,
  • SI,
  • ME20-M,
  • SILV,
  • HGNC:10880,
  • PMEL17,
  • PMEL,
  • Pmel17,
  • SI,
  • P1,
  • gp100,
  • uc001sip.4,
  • D12S53E,
  • P100,
  • OTTHUMG00000170573,
  • SIL,
  • ME20,
  • silver (mouse homolog) like,
  • ME20M,
  • gp100
  • identifiers:
  • 6490,
  • ENSG00000185664,
  • PMEL

Genome feature

Region: gene ? Length: 12608  
Location: 12:55954105-55966712 reverse strand Cyto location: 12q13.2


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0 Pathways

Gene --> GO terms.

Mouse Gene --> Allele [Phenotype]

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Proteins

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SNPs

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Disease

0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Mouse Gene --> Allele [Phenotype]

Homology

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Expression

Gene(s) --> Significant SNPs (GTex data)

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Other

0 Pathways

2011 SN Ps

5 Cross References

15 Data Sets

6 Homologues

0 Located Features

90 Rna Seq Results