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Table 1 Human pigmentation gene identification and function

From: Human pigmentation genes under environmental selection

Gene Animal color locusa Human disease/phenotype Protein Candidate GWAS GWAS
TYR Albino OCA1 Melanogenic enzyme + + +
OCA2 Pink-eyed dilute OCA2 Membrane transporter + + +
TYRP1 Brown OCA3 Melanogenic enzyme   +  
SLC45A2 Underwhite/b-locusb OCA4 Membrane transporter (MATP) + + +
MC1R Extension Red hair G-protein coupled receptor + + +
ASIP Agouti - MC1R antagonist + + +
POMC Pomc Red hair Proopiomelanocortin (POMC/α-MSH) + - -
DCT Slaty - Melanogenic enzyme + - -
SLC24A5 Goldenc - Membrane transporter (NCKX5) + + +
KITLG Steel FPHH Growth factor (SCF) + + +
KIT Dominant white spotting Piebaldism Receptor tyrosine kinase (c-Kit) + - -
IRF4 - - Interferon regulatory factor-4 (IRF4) - + +
HBD3 Black coatd - Antimicrobial peptide (β-defensin 3) - - -
SILV Silver - Melanosomal protein (pMel17) + - -
TPCN2 - - Two pore segment channel/ion transport (TPC2) - + +
MITF Microphthalmia Waardburg II Transcription factor (MITF) + - -
MYO5A Dilute Usher syndrome Myosin type Va + - -
DTNBP1 Sandy HPS7 Lysosome-related organelles complex 1 (BLOC-1) (dysbindin) + - -
RAB27A Ashen Griscelli Rab protein for melanosome transport + - -
ATRN Mahogany - Attractin + - -
LYST Beige Chediak Higashi Membrane protein + - -
MLPH Leaden Griscelli Melanophilin + - -
HPS6 - HPS6 BLOC-2 complex, HSP6 subunit + - -
TRPM1 - - TRP cation channel - + +
ADAM17 Adam17 - Disintegrin and metalloproteinase +   -
ADAMTS20 Belted - Disintegrin and metalloproteinase with thrombospondin + - -
EGFR Dsk5 - Epidermal growth factor receptor + - -
CORIN 'Dirty blonde' - Serine protease/modifier of agouti + - -
OPRM1 - - Opioid receptor + - -
NRG1 e - - Paracrine factor (neuregulin-1) - - -
BNC2 Bonapartec - Zn finger protein (basonuclin-2) + + +
CTNS Ctns -/- Cystinosis Cystine transporter (cystinosin) + - -
EDNRB Piebald spotting Hirshsprung 2 G-protein coupled receptor + - -
EDN3 Lethal spotting Waardburg-Shah Ligand for EDNRB + - -
  1. aMouse coat color unless stated otherwise.
  2. bMedaka fish.
  3. cZebrafish.
  4. dCanine.
  5. eBiochemical/cellular.