Skin/hair/eye Pigmentation, Variation In, 2; Shep2

Description

Two types of melanin, the red pheomelanin and the black eumelanin, are present in human skin. Valverde et al. (1995) noted that eumelanin is photoprotective, whereas pheomelanin may contribute to UV-induced skin damage because of its potential to generate free radicals in response to ultraviolet radiation. Individuals with red hair have a predominance of pheomelanin in hair and skin and/or a reduced ability to produce eumelanin, which may explain why they fail to tan and are at risk from ultraviolet radiation. In mammals, the relative proportions of pheomelanin and eumelanin are regulated by melanocyte-stimulating hormone (see {176830}), which acts via its receptor (MC1R) on melanocytes to increase the synthesis of eumelanin, and also via the product of the agouti locus (AGTI ), which antagonizes this action.

Clinical Features

Phenotypes and symptoms related to Skin/hair/eye Pigmentation, Variation In, 2; Shep2

  • Red hair

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Skin/hair/eye Pigmentation, Variation In, 2; Shep2 Is also known as rha, hcl2, hair color 2, red hair color, rhc, blond hair/fair skin.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Skin/hair/eye Pigmentation, Variation In, 2; Shep2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Ocular Albinism and Hermansky Pudlak Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

TYR, TYRP1, HPS3, HPS4, SLC45A2, HPS5, DTNBP1, HPS6, LYST, GPR143, SLC24A5, BLOC1S3, LRMDA, AP3B1, MC1R, OCA2, BLOC1S6
Specificity
6 %
Genes
100 %
Hereditary Melanoma Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

BRCA1, BRCA2, TP53, WRN, POT1, CDK4, CDKN2A, ACD, MC1R, POLE, BAP1
Specificity
10 %
Genes
100 %
Low-risk Melanoma Susceptibility Gene.

By Service de Génétique Gustave Roussy (France).

MC1R
Specificity
100 %
Genes
100 %
Albinism (NGS panel for 12 genes).

By CGC Genetics (Portugal).

TYR, TYRP1, SLC45A2, LYST, GPR143, SLC24A5, LRMDA, MC1R, MITF, MYO5A, OCA2, RAB27A
Specificity
9 %
Genes
100 %
Melanoma, cutaneous malignant 5 (sequence analysis of MC1R gene).

By CGC Genetics (Portugal).

MC1R
Specificity
100 %
Genes
100 %
UV sensitivity (MCR1 gene).

By CGC Genetics (Portugal).

MC1R
Specificity
100 %
Genes
100 %
Oculocutaneous Albinism Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

TYR, TYRP1, SLC45A2, HPS6, LYST, GPR143, SLC24A5, LRMDA, MC1R, MITF, MYO5A, OCA2, RAB27A
Specificity
8 %
Genes
100 %

You can get up to 27 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 INTERSTITIAL LUNG AND LIVER DISEASE; ILLD CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1; CMTX1 ZIMMERMANN-LABAND SYNDROME 1; ZLS1 SPINOCEREBELLAR ATAXIA 2; SCA2 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6; NBIA6 HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1