LGI4
entrez
163175
canonical
uniprot
Q8N135
canonical
ensembl
ENSG00000153902
resolver
ensp
ENSP00000312273
resolver
genesymbol
LGI4
resolver
genesymbol_syn
LGIL3
resolver
hgnc
HGNC:18712
resolver
uniprot
A5D6Y5
resolver
uniprot
B2RN53
resolver
uniprot
B9EGS7
resolver
uniprot
Q5M8T1
resolver
uniprot_entry
A5D6Y5_HUMAN
resolver
uniprot_entry
LGI4_HUMAN
resolver
uniprot_sec
B2RN53
resolver
uniprot_sec
B9EGS7
resolver
uniprot_sec
Q5M8T1
resolver
amino_acid_sequence
MGGAGILLLLLAGAGVVVAWRPPKGKCPLRCSCSKDSALCEGSPDLPVSFSPTLLSLSLVRTGVTQLKAGSFLRIPSLHLLLFTSNSFSVIEDDAFAGLSHLQYLFIEDNEIGSISKNALRGLRSLTHLSLANNHLETLPRFLFRGLDTLTHVDLRGNPFQCDCRVLWLLQWMPTVNASVGTGACAGPASLSHMQLHHLDPKTFKCRAIELSWFQTVGESALSVEPFSYQGEPHIVLAQPFAGRCLILSWDYSLQRFRPEEELPAASVVSCKPLVLGPSLFVLAARLWGGSQLWARPSPGLRLAPTQTLAPRRLLRPNDAELLWLEGQPCFVVADASKAGSTTLLCRDGPGFYPHQSLHAWHRDTDAEALELDGRPHLLLASASQRPVLFHWTGGRFERRTDIPEAEDVYATRHFQAGGDVFLCLTRYIGDSMVMRWDGSMFRLLQQLPSRGAHVFQPLLIARDQLAILGSDFAFSQVLRLEPDKGLLEPLQELGPPALVAPRAFAHITMAGRRFLFAACFKGPTQIYQHHEIDLSA
uniprot
proteins
disease_involvement
DISEASE: Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect (AMC1) [MIM:617468]: A form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMC1 is an autosomal recessive severe form with onset in utero. Most affected individuals die in utero. Those who survive have generalized contractures and hypotonia. The disorder is caused by a neurogenic defect and poor or absent myelin formation around peripheral nerves rather than by a muscular defect. {ECO:0000269|PubMed:28318499}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of Schwann cell signaling pathway(s) that controls axon segregation and myelin formation (By similarity). {ECO:0000250|UniProtKB:Q8K1S1}.
uniprot
proteins
mass_dalton
59141
uniprot
proteins
pubmed
12023020
uniprot
proteins
pubmed
12095917
uniprot
proteins
pubmed
12217514
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
28318499
uniprot
proteins
sequence_length
537
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
uniprot
proteins