LRMDA - leucine rich melanocyte differentiation associated Gene

Homo sapiens

Also known as CDA017; C10orf11

Gene ID: 83938 | Gene type: protein coding

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

LRMDA Protein Structure

LRR_9

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07791	LRMDA Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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