LRMDA (leucine rich melanocyte differentiation associated)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID 83938
Gene name Leucine rich melanocyte differentiation associated
Gene symbol LRMDA
Synonyms (NCBI Gene)
C10orf11CDA017
Chromosome 10
Chromosome location 10q22.2-q22.3
Summary 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
SNPs SNP information provided by dbSNP.
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Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (6)
SNP ID Visualize variation Clinical significance Consequence
rs146123023 C>- Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, intron variant, frameshift variant
rs147768808 C>T Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, non coding transcript variant, synonymous variant
rs587776952 C>T Pathogenic Coding sequence variant, stop gained, non coding transcript variant
rs587776953 ->C Pathogenic Coding sequence variant, frameshift variant, non coding transcript variant
rs878854351 C>A,T Likely-pathogenic Synonymous variant, non coding transcript variant, coding sequence variant, missense variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (3)
GO ID Ontology Definition Evidence Reference
GO:0030154 Process Cell differentiation IEA
GO:0030318 Process Melanocyte differentiation IBA
GO:0030318 Process Melanocyte differentiation IMP 23395477
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614537 23405 ENSG00000148655
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H2I8
Protein name Leucine-rich melanocyte differentiation-associated protein
Protein function Required for melanocyte differentiation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14580 LRR_9 5 → 150 Repeat
Tissue specificity TISSUE SPECIFICITY: In the embryo, expressed in melanoblasts. In the fetus, expressed in melanocytes. Not detected in retinal pigment epithelial cells. {ECO:0000269|PubMed:23395477}.
Sequence
Sequence length 198
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
LRMDA-related disorder Pathogenic rs587776953 RCV003974869
Oculocutaneous albinism type 7 Likely pathogenic; Pathogenic rs878854351, rs587776952, rs587776953 RCV000234797
RCV000034833
RCV000034834
Show/Hide Text Mining Associations (4)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Albinism Associate 35488210
Chromosome Deletion Associate 19844253
Cognition Disorders Associate 19844253
Diabetes Mellitus Associate 36104811