IGFALS
entrez
3483
canonical
uniprot
P35858
canonical
ensembl
ENSG00000099769
resolver
ensp
ENSP00000215539
resolver
ensp
ENSP00000416683
resolver
genesymbol
IGFALS
resolver
genesymbol_syn
ALS
resolver
hgnc
HGNC:5468
resolver
uniprot
B4DZY8
resolver
uniprot
E9PGU3
resolver
uniprot
Q8TAY0
resolver
uniprot_entry
ALS_HUMAN
resolver
uniprot_entry
Q8TAY0_HUMAN
resolver
uniprot_sec
B4DZY8
resolver
uniprot_sec
E9PGU3
resolver
amino_acid_sequence
MALRKGGLALALLLLSWVALGPRSLEGADPGTPGEAEGPACPAACVCSYDDDADELSVFCSSRNLTRLPDGVPGGTQALWLDGNNLSSVPPAAFQNLSSLGFLNLQGGQLGSLEPQALLGLENLCHLHLERNQLRSLALGTFAHTPALASLGLSNNRLSRLEDGLFEGLGSLWDLNLGWNSLAVLPDAAFRGLGSLRELVLAGNRLAYLQPALFSGLAELRELDLSRNALRAIKANVFVQLPRLQKLYLDRNLIAAVAPGAFLGLKALRWLDLSHNRVAGLLEDTFPGLLGLRVLRLSHNAIASLRPRTFKDLHFLEELQLGHNRIRQLAERSFEGLGQLEVLTLDHNQLQEVKAGAFLGLTNVAVMNLSGNCLRNLPEQVFRGLGKLHSLHLEGSCLGRIRPHTFTGLSGLRRLFLKDNGLVGIEEQSLWGLAELLELDLTSNQLTHLPHRLFQGLGKLEYLLLSRNRLAELPADALGPLQRAFWLDVSHNRLEALPNSLLAPLGRLRYLSLRNNSLRTFTPQPPGLERLWLEGNPWDCGCPLKALRDFALQNPSAVPRFVQAICEGDDCQPPAYTYNNITCASPPEVVGLDLRDLSEAHFAPC
uniprot
proteins
disease_involvement
DISEASE: Acid-labile subunit deficiency (ACLSD) [MIM:615961]: A disorder characterized by severely reduced serum IGF-I and IGFBP-3 concentrations and mild growth retardation. Pubertal delay in boys and insulin insensitivity are common findings. {ECO:0000269|PubMed:14762184, ECO:0000269|PubMed:16507628, ECO:0000269|PubMed:17726072, ECO:0000269|PubMed:18303074, ECO:0000269|PubMed:19129715, ECO:0000269|PubMed:20389102, ECO:0000269|PubMed:21396577, ECO:0000269|PubMed:23488611}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in protein-protein interactions that result in protein complexes, receptor-ligand binding or cell adhesion.
uniprot
proteins
mass_dalton
66035
uniprot
proteins
pubmed
10650966
uniprot
proteins
pubmed
1379671
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14762184
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
16335952
uniprot
proteins
pubmed
16507628
uniprot
proteins
pubmed
17726072
uniprot
proteins
pubmed
18303074
uniprot
proteins
pubmed
19129715
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
20389102
uniprot
proteins
pubmed
21396577
uniprot
proteins
pubmed
23488611
uniprot
proteins
pubmed
2473065
uniprot
proteins
pubmed
35907924
uniprot
proteins
sequence_length
605
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space.
uniprot
proteins