Entity Details

Primary name LRMDA_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9H2I8
EntryNameLRMDA_HUMAN
FullNameLeucine-rich melanocyte differentiation-associated protein
TaxID9606
Evidenceevidence at protein level
Length198
SequenceStatuscomplete
DateCreated2004-04-26
DateModified2021-06-02

Ontological Relatives

GenesLRMDA

GO terms

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GOName
GO:0030318 melanocyte differentiation

Subcellular Location

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Domains

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DomainNameCategoryType
IPR001611 Leucine-rich repeatRepeatRepeat
IPR032675 Leucine-rich repeat domain superfamilyFamilyHomologous superfamily
IPR043313 Leucine-rich melanocyte differentiation-associated proteinFamilyFamily

Diseases

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Disease IDSourceNameDescription
615179 OMIMAlbinism, oculocutaneous, 7 (OCA7)A disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions