rs11891426
This is a intron variant variant in the MLPH gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Putative Prostate Cancer Risk SNP in an Androgen Receptor‐Binding Site of the Melanophilin Gene Illustrates Enrichment of Risk SNPs in Androgen Receptor Target SitesFunctionalN=126Huajie Bu et al.(2016)· Human Mutation
This study integrated ChIP-seq analysis of androgen receptor-binding sites in prostate cancer cells with GWAS data and found that rs11891426:T>G in the melanophilin gene (MLPH) lies within a functional AR-binding motif, with the risk G allele attenuating transcriptional activity. Expression analysis showed MLPH was significantly lower in tumors carrying the G allele, suggesting a tumor-suppressive role weakened by this functional variant.
About MLPH
This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin. A mutation in this gene results in Griscelli syndrome type 3, which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
View all MLPH variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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