LRMDA
entrez
83938
canonical
uniprot
Q9H2I8
canonical
ensembl
ENSG00000148655
resolver
ensp
ENSP00000361577
resolver
ensp
ENSP00000480240
resolver
enst
ENST00000372499
resolver
enst
ENST00000611255
resolver
genesymbol
LRMDA
resolver
hgnc
HGNC:23405
resolver
uniprot
A0A087WWI0
resolver
uniprot
B1AVW6
resolver
uniprot_entry
A0A087WWI0_HUMAN
resolver
uniprot_entry
LRMDA_HUMAN
resolver
uniprot_sec
B1AVW6
resolver
amino_acid_sequence
MEKYLSLSGNHSSNKRSLEGLSAFRSLEELILDNNQLGDDLVLPGLPRLHTLTLNKNRITDLENLLDHLAEVTPALEYLSLLGNVACPNELVSLEKDEEDYKRYRCFVLYKLPNLKFLDAQKVTRQEREEALVRGVFMKVVKPKASSEDVASSPERHYTPLPSASRELTSHQGVLGKCRYVYYGKNSEGNRFIRDDQL
uniprot
proteins
disease_involvement
DISEASE: Albinism, oculocutaneous, 7 (OCA7) [MIM:615179]: 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. {ECO:0000269|PubMed:23395477}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for melanocyte differentiation. {ECO:0000269|PubMed:23395477}.
uniprot
proteins
mass_dalton
22568
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
18088087
uniprot
proteins
pubmed
23395477
uniprot
proteins
pubmed
25944712
uniprot
proteins
sequence_length
198
uniprot
proteins