Transcriptional co-activator regulates melanocyte differentiation …
2021年5月18日 · We report a selective differentiation impairment in CRTC3 KO melanocytes and melanoma cells, due to downregulation of oculo-cutaneous albinism II (OCA2) and block of …
CRISPR mutagenesis confirms the role of oca2 in melanin
2018年9月15日 · We have leveraged the CRISPR/Cas9 genome editing techniques to characterize the effects of mutations in oculocutaneous albinism II (oca2), a candidate gene …
Integrative functional genomic analyses identify genetic variants ...
2024年1月10日 · We found that independent mutations in an OCA2 enhancer contribute to the evolution of human skin color diversity and detect signals of local adaptation at enhancers of …
An intracellular anion channel critical for pigmentation - PMC
Defects in melanosome function cause albinism, characterized by vision and pigmentation deficits, impaired retinal development, and increased susceptibility to skin and eye cancers. …
Genome-wide association study and gene editing reveals the …
2022年11月15日 · Further disruption of oca2 by CRISPR/Cas9 gene editing system generated abnormal red individuals, and the DNA sequencing exhibited perturbation of peaks in the …
Mutational Analysis of the TYR and OCA2 Genes in Four Chinese …
2015年4月28日 · Oculocutaneous albinism (OCA) is an autosomal recessive disorder. The most common type OCA1 and OCA2 are caused by homozygous or compound heterozygous …
We report a selective differentiation impairment in CRTC3 KO mela-nocytes and melanoma cells, due to downregulation of oculo-cutaneous albinism II (OCA2) and block of melanosome …
OCA2 Gene - GeneCards | P Protein | P Antibody
2024年12月25日 · OCA2 (OCA2 Melanosomal Transmembrane Protein) is a Protein Coding gene. Diseases associated with OCA2 include Albinism, Oculocutaneous, Type Ii and …
A new type of oculocutaneous albinism with a novel OCA2 mutation
OCA2 encodes a pigment cell-specific, 12-transmembrane domain protein with homology to ion permeases. G780S is located in one of the extracellular topological domains of OCA2. Several …
Transcriptional co-activator regulates melanocyte differentiation …
We report a selective differentiation impairment in CRTC3 KO melanocytes and melanoma cells, due to downregulation of oculo-cutaneous albinism II (OCA2) and block of melanosome …