HRURF
entrez
120766137
canonical
uniprot
P0DUH7
canonical
ensembl
ENSG00000288677
resolver
ensp
ENSP00000505144
resolver
enst
ENST00000518377
resolver
genesymbol
HRURF
resolver
genesymbol_syn
U2HR
resolver
hgnc
HGNC:55085
resolver
uniprot
A0A7P0T8H1
resolver
uniprot_entry
A0A7P0T8H1_HUMAN
resolver
uniprot_entry
HRURF_HUMAN
resolver
amino_acid_sequence
MAQPTASAQKLVRPIRAVCRILQIPESDPSNLRP
uniprot
proteins
disease_involvement
DISEASE: Hypotrichosis 4 (HYPT4) [MIM:146550]: An autosomal dominant condition characterized by reduced amount of hair, alopecia, little or no eyebrows, eyelashes or body hair, and coarse, wiry, twisted hair in early childhood. {ECO:0000269|PubMed:10777357, ECO:0000269|PubMed:11069461, ECO:0000269|PubMed:19122663}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May function as an inhibitory translational control element that can negatively regulate protein translation of HR gene. {ECO:0000269|PubMed:19122663}.
uniprot
proteins
mass_dalton
3757
uniprot
proteins
pubmed
10777357
uniprot
proteins
pubmed
11069461
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
19122663
uniprot
proteins
sequence_length
34
uniprot
proteins