PHLDB1
entrez
23187
canonical
uniprot
Q86UU1
canonical
ensembl
ENSG00000019144
resolver
ensp
ENSP00000348359
resolver
ensp
ENSP00000354498
resolver
ensp
ENSP00000469820
resolver
ensp
ENSP00000531004
resolver
ensp
ENSP00000531013
resolver
ensp
ENSP00000531014
resolver
ensp
ENSP00000531021
resolver
ensp
ENSP00000531023
resolver
ensp
ENSP00000531041
resolver
ensp
ENSP00000531042
resolver
ensp
ENSP00000531043
resolver
ensp
ENSP00000531046
resolver
ensp
ENSP00000785168
resolver
genesymbol
PHLDB1
resolver
genesymbol_syn
KIAA0638
resolver
genesymbol_syn
LL5A
resolver
hgnc
HGNC:23697
resolver
uniprot
B0YJ63
resolver
uniprot
B0YJ64
resolver
uniprot
O75133
resolver
uniprot
Q4KMF8
resolver
uniprot
Q6ZUD6
resolver
uniprot
Q8NC75
resolver
uniprot
Q8TEQ2
resolver
uniprot_entry
PHLB1_HUMAN
resolver
uniprot_entry
Q6ZUD6_HUMAN
resolver
uniprot_entry
Q8NC75_HUMAN
resolver
uniprot_sec
B0YJ63
resolver
uniprot_sec
B0YJ64
resolver
uniprot_sec
O75133
resolver
uniprot_sec
Q4KMF8
resolver
uniprot_sec
Q8TEQ2
resolver
amino_acid_sequence
MDALNRNQIGPGCQTQTMVQKGPLDLIETGKGLKVQTDKPHLVSLGSGRLSTAITLLPLEEGRTVIGSAARDISLQGPGLAPEHCYIENLRGTLTLYPCGNACTIDGLPVRQPTRLTQGCMLCLGQSTFLRFNHPAEAKWMKSMIPAGGRAPGPPYSPVPAESESLVNGNHTPQTATRGPSACASHSSLVSSIEKDLQEIMDSLVLEEPGAAGKKPAATSPLSPMANGGRYLLSPPTSPGAMSVGSSYENTSPAFSPLSSPASSGSCASHSPSGQEPGPSVPPLVPARSSSYHLALQPPQSRPSGARSESPRLSRKGGHERPPSPGLRGLLTDSPAATVLAEARRATESPRLGGQLPVVAISLSEYPASGALSQPTSIPGSPKFQPPVPAPRNKIGTLQDRPPSPFREPPGSERVLTTSPSRQLVGRTFSDGLATRTLQPPESPRLGRRGLDSMRELPPLSPSLSRRALSPLPTRTTPDPKLNREVAESPRPRRWAAHGASPEDFSLTLGARGRRTRSPSPTLGESLAPHKGSFSGRLSPAYSLGSLTGASPCQSPCVQRKLSSGDLRVPVTRERKNSITEISDNEDDLLEYHRRQRQERLREQEMERLERQRLETILNLCAEYSRADGGPEAGELPSIGEATAALALAGRRPSRGLAGASGRSSEEPGVATQRLWESMERSDEENLKEECSSTESTQQEHEDAPSTKLQGEVLALEEERAQVLGHVEQLKVRVKELEQQLQESAREAEMERALLQGEREAERALLQKEQKAVDQLQEKLVALETGIQKERDKEAEALETETKLFEDLEFQQLERESRVEEERELAGQGLLRSKAELLRSIAKRKERLAILDSQAGQIRAQAVQESERLARDKNASLQLLQKEKEKLTVLERRYHSLTGGRPFPKTTSTLKEMEKLLLPAVDLEQWYQELMAGLGTGPAAASPHSSPPPLPAKASRQLQVYRSKMDGEATSPLPRTRSGPLPSSSGSSSSSSQLSVATLGRSPSPKSALLTQNGTGSLPRNLAATLQDIETKRQLALQQKGQQVIEEQRRRLAELKQKAAAEAQCQWDALHGAAPFPAGPSGFPPLMHHSILHHLPAGRERGEEGEHAYDTLSLESSDSMETSISTGGNSACSPDNMSSASGLDMGKIEEMEKMLKEAHAEKNRLMESREREMELRRQALEEERRRREQVERRLQSESARRQQLVEKEVKMREKQFSQARPLTRYLPIRKEDFDLKTHIESSGHGVDTCLHVVLSSKVCRGYLVKMGGKIKSWKKRWFVFDRLKRTLSYYVDKHETKLKGVIYFQAIEEVYYDHLRSAAKKRFFRFTMVTESPNPALTFCVKTHDRLYYMVAPSAEAMRIWMDVIVTGAEGYTQFMN
uniprot
proteins
disease_involvement
DISEASE: Osteogenesis imperfecta 23 (OI23) [MIM:620639]: An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI23 is a mild form characterized by osteopenia with or without recurrent fractures, platyspondyly, short and bowed long bones, and widened metaphyses. Platyspondyly and metaphyseal enlargement is present in infancy but resolve in middle childhood. {ECO:0000269|PubMed:36543534}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
mass_dalton
151162
uniprot
proteins
pubmed
11001876
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
14532993
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
36543534
uniprot
proteins
pubmed
9734811
uniprot
proteins
sequence_length
1377
uniprot
proteins