LMX1B
entrez
4010
canonical
uniprot
O60663
canonical
ensembl
ENSG00000136944
resolver
ensp
ENSP00000347684
resolver
ensp
ENSP00000362573
resolver
ensp
ENSP00000436930
resolver
genesymbol
LMX1B
resolver
hgnc
HGNC:6654
resolver
uniprot
B7ZLH2
resolver
uniprot
F8W7W6
resolver
uniprot
O75463
resolver
uniprot
Q5JU95
resolver
uniprot
Q6ISC9
resolver
uniprot
Q6ISE0
resolver
uniprot_entry
B7ZLH2_HUMAN
resolver
uniprot_entry
LMX1B_HUMAN
resolver
uniprot_entry
Q6ISE0_HUMAN
resolver
uniprot_sec
F8W7W6
resolver
uniprot_sec
O75463
resolver
uniprot_sec
Q5JU95
resolver
uniprot_sec
Q6ISC9
resolver
amino_acid_sequence
MDIATGPESLERCFPRGQTDCAKMLDGIKMEEHALRPGPATLGVLLGSDCPHPAVCEGCQRPISDRFLMRVNESSWHEECLQCAACQQALTTSCYFRDRKLYCKQDYQQLFAAKCSGCMEKIAPTEFVMRALECVYHLGCFCCCVCERQLRKGDEFVLKEGQLLCKGDYEKEKDLLSSVSPDESDSVKSEDEDGDMKPAKGQGSQSKGSGDDGKDPRRPKRPRTILTTQQRRAFKASFEVSSKPCRKVRETLAAETGLSVRVVQVWFQNQRAKMKKLARRHQQQQEQQNSQRLGQEVLSSRMEGMMASYTPLAPPQQQIVAMEQSPYGSSDPFQQGLTPPQMPGDHMNPYGNDSIFHDIDSDTSLTSLSDCFLGSSDVGSLQARVGNPIDRLYSMQSSYFAS
uniprot
proteins
disease_involvement
DISEASE: Nail-patella syndrome (NPS) [MIM:161200]: Disease that cause abnormal skeletal patterning and renal dysplasia. {ECO:0000269|PubMed:10571942, ECO:0000269|PubMed:11668639, ECO:0000269|PubMed:9590287, ECO:0000269|PubMed:9618165, ECO:0000269|PubMed:9837817}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Focal segmental glomerulosclerosis 10 (FSGS10) [MIM:256020]: An autosomal dominant form of focal segmental glomerulosclerosis, a renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. {ECO:0000269|PubMed:23687361, ECO:0000269|PubMed:24042019, ECO:0000269|PubMed:26560070, ECO:0000269|PubMed:28059119, ECO:0000269|PubMed:32356190, ECO:0000269|PubMed:32791958}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor involved in the regulation of podocyte-expressed genes (PubMed:24042019, PubMed:28059119). Essential for the specification of dorsal limb fate at both the zeugopodal and autopodal levels. {ECO:0000269|PubMed:24042019, ECO:0000269|PubMed:28059119}.
uniprot
proteins
mass_dalton
44917
uniprot
proteins
mutagenesis
MUTAGEN 265; /note="V->L: Loss of transcriptional activity."; /evidence="ECO:0000269|PubMed:24042019
uniprot
proteins
pubmed
10571942
uniprot
proteins
pubmed
11668639
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
23308148
uniprot
proteins
pubmed
23687361
uniprot
proteins
pubmed
24042019
uniprot
proteins
pubmed
26560070
uniprot
proteins
pubmed
28059119
uniprot
proteins
pubmed
32356190
uniprot
proteins
pubmed
32791958
uniprot
proteins
pubmed
9590287
uniprot
proteins
pubmed
9618165
uniprot
proteins
pubmed
9837817
uniprot
proteins
sequence_length
402
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
uniprot
proteins