LMX1A
entrez
4009
canonical
uniprot
Q8TE12
canonical
ensembl
ENSG00000162761
resolver
ensp
ENSP00000294816
resolver
ensp
ENSP00000340226
resolver
genesymbol
LMX1A
resolver
hgnc
HGNC:6653
resolver
uniprot
B3KXP6
resolver
uniprot
Q0VDB5
resolver
uniprot
Q5VWG4
resolver
uniprot
Q8TE11
resolver
uniprot_entry
LMX1A_HUMAN
resolver
uniprot_sec
B3KXP6
resolver
uniprot_sec
Q0VDB5
resolver
uniprot_sec
Q5VWG4
resolver
uniprot_sec
Q8TE11
resolver
amino_acid_sequence
MLDGLKMEENFQSAIDTSASFSSLLGRAVSPKSVCEGCQRVILDRFLLRLNDSFWHEQCVQCASCKEPLETTCFYRDKKLYCKYDYEKLFAVKCGGCFEAIAPNEFVMRAQKSVYHLSCFCCCVCERQLQKGDEFVLKEGQLLCKGDYEKERELLSLVSPAASDSGKSDDEESLCKSAHGAGKGTAEEGKDHKRPKRPRTILTTQQRRAFKASFEVSSKPCRKVRETLAAETGLSVRVVQVWFQNQRAKMKKLARRQQQQQQDQQNTQRLSSAQTNGGGSAGMEGIMNPYTALPTPQQLLAIEQSVYSSDPFRQGLTPPQMPGDHMHPYGAEPLFHDLDSDDTSLSNLGDCFLATSEAGPLQSRVGNPIDHLYSMQNSYFTS
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal dominant, 7 (DFNA7) [MIM:601412]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA7 is a progressive form with highly variable age at onset and severity, even within families. The age at onset ranges from congenital to mid-adulthood. {ECO:0000269|PubMed:29754270}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Acts as a transcriptional activator by binding to an A/T-rich sequence, the FLAT element, in the insulin gene promoter. Required for development of the roof plate and, in turn, for specification of dorsal cell fates in the CNS and developing vertebrae (By similarity). {ECO:0000250}.
uniprot
proteins
mass_dalton
42747
uniprot
proteins
pubmed
12062816
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
29754270
uniprot
proteins
pubmed
29971487
uniprot
proteins
sequence_length
382
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
uniprot
proteins