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LMDRA (leucine rich melanocyte differentiation associated)

Written2016-04Kunal Ray, Mainak Sengupta, Sampurna Ghosh
Academy of Scientific and Innovative Research (AcSIR), Campus at CSIR - Central Road Research Institute, Mathura Road, New Delhi - 110 025, (KR); University of Calcutta, Department of Genetics, 35, Ballygunge Circular Road, Kolkata - 700 019,; (MS, SG) India.

Abstract C10orf11 encodes a leucine-rich repeat protein having a role in melanocyte differentiation. Mutations in this gene have been associated with autosomal recessive oculocutaneous albinism 7 (OCAVII).

Keywords OCAVII, albinism, C10orf11

(Note : for Links provided by Atlas : click)


Other aliasOculocutaneous Albinism 7
C10orf11 (Chromosome 10 Open Reading Frame 11)
LocusID (NCBI) 83938
Atlas_Id 60852
Location 10q22.3  [Link to chromosome band 10q22]
Location_base_pair Starts at and ends at bp from pter
  Cytogenetic band showing C10orf11 locus ( C10orf11).


Description In Chromosome: 10, the 1,128,715 bases long gene starts from 75,431,453bp from pter and ends 76,560,167 bp from pter; Orientation: Plus strand. It contains 6 exons.
Transcription C10orf11 encodes 16 splice variants of which 4 are protein coding and the remaining are processed transcripts.


Description The gene encodes a 198 amino acids long leucine-rich repeat-containing protein of molecular mass 22568 Da.
Expression The gene is expressed in embryonic melanoblasts and fetal melanocyte and has not been detected in retinal pigment epithelial cells. In addition the expression of the gene in the following tissue types are evident by its existence in the corresponding cDNA libraries: adrenal cortex, brain, cartilage, cerebellum, endocrine, eye, fetus, heart, kidney, liver, lung, muscle, nervous, pancreas, pancreatic islet, placenta, pooled tissue, prostate, skin, stem cell, testis and uterus (
Localisation 10q22.3
Function The precise function of C10ORF11 is not yet known. However, there is some evidence that the protein might have a role in melanocyte differentiation.


Germinal C10orf11 mutations are responsible for Oculocutaneous Albinism type 7 (OCA7). Nine Faroese patients and one Danish patient of Lithuanian origin were found to have mutations in C10orf11 gene representing OCAVII (Gronskov et al., 2014). These patients have a light skin pigmentation that is reported to be lighter than their relatives. Hair color ranges from light blond to dark brown. Eye findings include nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and very sparse peripheral ocular fundus pigmentation.

Implicated in

Entity Breast Cancer
Note To identify genetic polymorphisms associated with clinical outcomes of breast cancer patients with tamoxifen treatment, genome-wide association study was conducted using 462 Japanese patients with hormone receptor-positive, invasive breast cancer receiving adjuvant tamoxifen therapy. The study revealed that rs10509373 in C10orf11 gene to be significantly associated with recurrence-free survival in the replication study (log-rank P= 2.02 ◊ 10-4). Hazard ratio per C allele of rs10509373 was found to be 4.51 [95% confidence interval (CI), 2.727.51; P= 6.29 ◊ 10-9]. In a combined analysis of rs10509373 genotype with previously identified genetic makers, CYP2D6 and ABCC2, the number of risk alleles of these three genes was reported to have cumulative effect on recurrence-free survival among 345 patients receiving tamoxifen monotherapy (log-rank P= 2.28 ◊ 10-12) (Kiyotani et al., 2011).


Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism
Grnskov K, Dooley CM, stergaard E, Kelsh RN, Hansen L, Levesque MP, Vilhelmsen K, Mllgård K, Stemple DL, Rosenberg T
Am J Hum Genet 2013 Mar 7;92(3):415-21
PMID 23395477
A genome-wide association study identifies locus at 10q22 associated with clinical outcomes of adjuvant tamoxifen therapy for breast cancer patients in Japanese
Kiyotani K, Mushiroda T, Tsunoda T, Morizono T, Hosono N, Kubo M, Tanigawara Y, Imamura CK, Flockhart DA, Aki F, Hirata K, Takatsuka Y, Okazaki M, Ohsumi S, Yamakawa T, Sasa M, Nakamura Y, Zembutsu H
Hum Mol Genet 2012 Apr 1;21(7):1665-72
PMID 22180457


This paper should be referenced as such :
Ray K, Sengupta M, Ghosh S
LMDRA (leucine rich melanocyte differentiation associated);
Atlas Genet Cytogenet Oncol Haematol. in press
On line version :

Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Oculocutaneous Albinism

External links

Genomic and cartography
Gene and transcription
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)83938
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Protein Interaction databases
Ontologies - Pathways
Clinical trials, drugs, therapy
canSAR (ICR) (select the gene name)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon May 22 09:06:33 CEST 2017

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