• Gene id: 83938

Gene Summary

• Gene Symbol: LRMDA   Gene   UCSC   Ensembl
• Aliases: C10orf11, CDA017
• Gene name: leucine rich melanocyte differentiation associated
• Alternate names: leucine-rich melanocyte differentiation-associated protein, leucine-rich repeat-containing protein C10orf11,
• Gene location: 10q22.2-q22.3 (75431623: 76560167)     Exons: 11     NC_000010.11
• Gene summary(Entrez): This gene encodes a leucine-rich repeat protein. The encoded protein is thought to play a role in melanocyte differentiation. Mutations in this gene have been associated with autosomal recessive oculocutaneous albinism 7 (OCA7). Alternatively spliced tran
• OMIM: 617462

Protein Summary

• Protein general information: Q9H2I8  
  • Name: Leucine rich melanocyte differentiation associated protein
  • Length: 198  
  • Mass: 22568
  • Tissue specificity: In the embryo, expressed in melanoblasts. In the fetus, expressed in melanocytes. Not detected in retinal pigment epithelial cells. {ECO
• Sequence:

  MEKYLSLSGNHSSNKRSLEGLSAFRSLEELILDNNQLGDDLVLPGLPRLHTLTLNKNRITDLENLLDHLAEVTPA
  LEYLSLLGNVACPNELVSLEKDEEDYKRYRCFVLYKLPNLKFLDAQKVTRQEREEALVRGVFMKVVKPKASSEDV
  ASSPERHYTPLPSASRELTSHQGVLGKCRYVYYGKNSEGNRFIRDDQL

• Structural information:
  • Protein Domains: (96..13-)
    (/note="LRRCT"-)
  • Interpro: IPR001611  IPR032675  
  • Prosite: PS51450
  • STRING: ENSP00000361577
• Other Databases: GeneCards:  LRMDA  Malacards:  LRMDA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030318	melanocyte differentiation	IBA	biological process
GO:0030318	melanocyte differentiation	IMP	biological process
GO:0030154	cell differentiation	IEA	biological process

Diseases

Associated diseases	References
Oculocutaneous albinism	KEGG:H00168
Oculocutaneous albinism	KEGG:H00168
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq