Medical Knowledge Cockpit skin/hair/eye pigmentation

• regulation of bad phosphorylation
  species not specified one gene

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TYRP1

• Tyrp1 and oculocutaneous albinism type 3
• Positive and negative elements regulate a melanocyte-specific promoter
• Downstream region of the human tyrosinase-related protein gene enhances its promoter activity

HERC2

• A Single SNP in an Evolutionary Conserved Region within Intron 86 of the HERC2 Gene Determines Human Blue-Brown Eye Color

OCA2

• Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression
• A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color
• A global view of the OCA2-HERC2 region and pigmentation

TPCN2

• Structure, inhibition and regulation of two-pore channel TPC1 from Arabidopsis thaliana

MC1R

• Proopiomelanocortin (POMC): the cutaneous roles of its melanocortin products and receptors
• Melanocortin-1 receptor gene variants affect pain and mu-opioid analgesia in mice and humans
• Involvement of the melanocortin-1 receptor in acute pain and pain of inflammatory but not neuropathic origin
• Anesthetic requirement is increased in redheads
• Increased sensitivity to thermal pain and reduced subcutaneous lidocaine efficacy in redheads

TYR

• Signaling and transcriptional regulation in the neural crest-derived melanocyte lineage: interactions between KIT and MITF
• Novel MITF targets identified using a two-step DNA microarray strategy

SLC24A5

• Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P loci
• Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians

SLC45A2

• Is autosomal recessive deafness associated with oculocutaneous albinism a "coincidence syndrome"?
• Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes

KITLG

• Subregional mapping of 13 single-copy genes on the long arm of chromosome 12 by fluorescence in situ hybridization
• Stem cell factor (SCF), a novel hematopoietic growth factor and ligand for c-kit tyrosine kinase receptor, maps on human chromosome 12 between 12q14.3 and 12qter
• Alternate splicing of mRNAs encoding human mast cell growth factor and localization of the gene to chromosome 12q22-q24
• Primary structure and functional expression of rat and human stem cell factor DNAs
• Human peripheral blood granulocytes and myeloid leukemic cell lines express both transcripts encoding for stem cell factor