Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Identification and functional analysis of novel variants of the human melanocortin 1 receptor found in melanoma patients.

Human mutation - 1 May 2009

Pérez Oliva Ana B, Fernéndez Lara P, Detorre Carlos, Herráiz Cecilia, Martínez-Escribano Jorge A, Benítez Javier, Lozano Teruel José A, García-Borrón José C, Jiménez-Cervantes Celia, Ribas Gloria

Abstract excerpt

The melanocortin 1 receptor, a Gs protein-coupled receptor expressed in epidermal melanocytes, is a major determinant of skin pigmentation and phototype and an important contributor to melanoma risk. MC1R activation stimulates synthesis of black, strongly photoprotective eumelanin pigments. Several MC1R alleles are associated with red hair, fair skin, increased sensitivity to ultraviolet radiation, and increased...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cyclic AMP
Share to Glycosylation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intracellular Space

Share to Melanoma

Share to Mutant Proteins

Share to Receptor, Melanocortin, Type 1

Share to Skin Neoplasms

Share to Subcellular Fractions

Source

Identifiers

PMID: 19338054
DOI: 10.1002/humu.20971

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification and functional analysis of novel variants of the human melanocortin 1 receptor found in melanoma patients.PMID 19338054Read ↗

Loss-of-function variants of the human melanocortin-1 receptor gene in melanoma cells define structural determinants of receptor function.Semantic proximity Read ↗

Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population.Semantic proximity Read ↗

The melanocortin-1 receptor gene polymorphism and association with human skin cancer.Semantic proximity Read ↗

Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles.Semantic proximity Read ↗

Dimerization of the human melanocortin 1 receptor: functional consequences and dominant-negative effects.Semantic proximity Read ↗

Regulation of human melanocortin 1 receptor signaling and trafficking by Thr-308 and Ser-316 and its alteration in variant alleles associated with red hair and skin cancer.Semantic proximity Read ↗

Functional characterization of a C-terminal splice variant of the human melanocortin 1 receptor.Semantic proximity Read ↗

MC1R, the cAMP pathway, and the response to solar UV: extending the horizon beyond pigmentation.Semantic proximity Read ↗

MC1R: three novel variants identified in a malignant melanoma association study in the Spanish population.Semantic proximity Read ↗

Melanocortin receptor 1 variants and melanoma risk: a study of 2 European populations.Semantic proximity Read ↗

Melanocortin-1 receptor (MC1R): a review for dermatologists.Semantic proximity Read ↗

Defining the quantitative contribution of the melanocortin 1 receptor (MC1R) to variation in pigmentary phenotype.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.