LRMDA - leucine rich melanocyte differentiation associated Gene

Also Known as CDA017; C10orf11

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 83938

About LRMDA

Cytogenetic location: 10q22.2-q22.3 Genomic coordinates (GRCh38): 10:75,431,624-76,560,168 (from NCBI)

This gene has 16 transcripts (splice variants), 201 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in adrenal (RPKM 1.6), spleen (RPKM 0.7) and 24 other tissues.

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 transcript variants have been identified. [provided by RefSeq, Mar 2015]

LRMDA Products (2)

mRNA Protein Name
NM_001305581.2 NP_001292510.1 leucine-rich melanocyte differentiation-associated protein isoform 1
NM_032024.5 NP_114413.1 leucine-rich melanocyte differentiation-associated protein isoform 2

Gene Ontology

  • Biological Process
Biological Process GO Annotation Evidence Références Source
involved in melanocyte differentiation IMP
IMP: Inferred from mutant phenotype
23395477 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LRMDA Protein Structure

LRR_9

LRR_9: Leucine-rich repeat (14 - 131)

  • 0
  • 100
  • 198 a.a.
Protein Preferred Names Protein Names

leucine-rich melanocyte differentiation-associated protein

  • leucine-rich repeat-containing protein C10orf11

Related Diseases

Diseases Alias
Albinism, Oculocutaneous, Type Vii

  • OCA7

  • Oculocutaneous Albinism Type 7

  • Oculocutaneous Albinism Type Vii

  • Albinism, Oculocutaneous, 7
Albinism
Oculocutaneous Albinism

  • Albinism, Oculocutaneous

  • Oca

  • Albinism Oculocutaneous

  • Oca - [Oculocutaneous Albinism]
Albinism, Oculocutaneous, Type Ib

  • OCA1B

  • Oculocutaneous Albinism Type 1b

  • Albinism, Yellow Mutant Type

  • Yellow Albinism

  • Oculocutaneous Albinism Type Ib

  • Temperature-Sensitive Oculocutaneous Albinism Type 1

  • Oculocutaneous Albinism, Type Ib

  • Yellow Mutant Albinism

  • Oca1-Ts

  • Ts Oca Type 1

  • Oculocutaneous Albinism, Amish Type

  • Platinum Oculocutaneous Albinism

  • Yellow Oculocutaneous Albinism

  • Albinism, Oculocutaneous, 1b

  • Albinism Yellow Mutant Type

  • Oca-Ib

  • Oca-Its

  • Oculocutaneous Albinism Type I Temperature-Sensitive

  • Albinism, Oculocutaneous, Type I, Temperature-Sensitive

  • Minimal Pigment Oculocutaneous Albinism
Albinism, Oculocutaneous, Type Iv

  • OCA4

  • Oculocutaneous Albinism Type 4

  • Oculocutaneous Albinism, Type Iv

  • Oculocutaneous Albinism Type Iv

  • Albinism, Oculocutaneous, 4
Albinism, Oculocutaneous, Type Iii

  • Rufous Oculocutaneous Albinism

  • Oculocutaneous Albinism Type 3

  • OCA3

  • Roca

  • Xanthism

  • Oculocutaneous Albinism Type Iii

  • Albinism Iii

  • Oculocutaneous Albinism, Type Iii

  • Albinism 3

  • Albinism, Oculocutaneous, Type 3

  • Rufous Oca

  • Red Oculocutaneous Albinism

  • Xanthous Oculocutaneous Albinism

  • Albinism, Oculocutaneous, 3

  • Oca-Iii
Aland Island Eye Disease

  • AIED

  • Forsius-Eriksson Type Ocular Albinism

  • Forsius-Eriksson Syndrome

  • Autoimmune Inner Ear Disease

  • Forsius Eriksson Type Ocular Albinism

  • Aland Islands Eye Disease

  • Aaland Island Eye Disease

  • Ocular Albinism, Type Ii
Pathologic Nystagmus

  • Nystagmus
Ocular Albinism

  • Albinism, Ocular

  • Oa

  • Xloa

  • Albinism Ocular
Congenital Nystagmus

  • Nystagmus, Congenital

  • Nystagmus Congenital
Albinism, Oculocutaneous, Type Ii

  • OCA2

  • Oculocutaneous Albinism Type 2

  • Oculocutaneous Albinism Type Ii

  • Albinoidism

  • Tyrosinase-Positive Oculocutaneous Albinism

  • Brown Oculocutaneous Albinism

  • Oculocutaneous Albinism, Tyrosinase-Positive

  • Albinism Ii

  • Albinism, Brown Oculocutaneous

  • Oculocutaneous Albinism, Type Ii, Modifier Of

  • Oculocutaneous Albinism, Type Ii

  • Albinism, Oculocutaneous, Type Ii, Modifier Of

  • Albinism 2

  • Albinism, Oculocutaneous, Type 2

  • Oculocutaneous Albinism Tyrosinase Positive

  • Oculocutaneous Albinism, Tyrosinase Positive

  • Albinism, Oculocutaneous, 2

  • Boca

  • Oca-2

  • Oculocutaneous Albinism Tyrosinase-Positive
Hermansky-Pudlak Syndrome

  • Hps

  • Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

  • Hermanski-Pudlak Syndrome

  • Hermansky Pudlak Syndrome

  • Platelet Storage Pool Deficiency
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Nom du produit
Effect
Pureté
Rare Diseases
HY-RS07791 LRMDA Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus LRMDA RGD RGD:1596707
Mus musculus LRMDA MGD MGI:1923883
Canis familiaris LRMDA VGNC VGNC:58314
Macaca mulatta LRMDA VGNC VGNC:106074
Others LRMDA NCBI