P protein

Definition:

Contributes to a melanosome-specific anion (chloride) current that modulates melanosomal pH for optimal tyrosinase activity required for melanogenesis and the melanosome maturation. One of the components of the mammalian pigmentary system. May serve as a key control point at which ethnic skin color variation is determined. Major determinant of brown and/or blue eye color. Seems to regulate the post-translational processing of tyrosinase, which catalyzes the limiting reaction in melanin synthesis (By similarity).

References:

[1]. Nicholas W Bellono, et al. An intracellular anion channel critical for pigmentation. Elife. 2014 Dec 16;3:e04543. [Content Brief]

[2]. Richard A Sturm, et al. Eye colour: portals into pigmentation genes and ancestry. Trends Genet. 2004 Aug;20(8):327-32. [Content Brief]

[3]. S T Lee, et al. Organization and sequence of the human P gene and identification of a new family of transport proteins. Genomics. 1995 Mar 20;26(2):354-63. [Content Brief]

[4]. M H Brilliant, et al. The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH. Pigment Cell Res. 2001 Apr;14(2):86-93. [Content Brief]

[5]. Richard A Sturm, et al. A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color. Am J Hum Genet. 2008 Feb;82(2):424-31. [Content Brief]

[6]. Mijke Visser, et al. HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter. Genome Res. 2012 Mar;22(3):446-55. [Content Brief]

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