TSHB
entrez
7252
canonical
uniprot
P01222
canonical
ensembl
ENSG00000134200
resolver
ensp
ENSP00000256592
resolver
genesymbol
TSHB
resolver
hgnc
HGNC:12372
resolver
uniprot
B1AKP0
resolver
uniprot
Q16163
resolver
uniprot_entry
TSHB_HUMAN
resolver
uniprot_sec
B1AKP0
resolver
uniprot_sec
Q16163
resolver
amino_acid_sequence
MTALFLMSMLFGLTCGQAMSFCIPTEYTMHIERRECAYCLTINTTICAGYCMTRDINGKLFLPKYALSQDVCTYRDFIYRTVEIPGCPLHVAPYFSYPVALSCKCGKCNTDYSDCIHEAIKTNYCTKPQKSYLVGFSV
uniprot
proteins
disease_involvement
DISEASE: Hypothyroidism, congenital, non-goitrous, 4 (CHNG4) [MIM:275100]: A form of central hypothyroidism, a disorder characterized by insufficient stimulation by thyroid stimulating hormone of an otherwise normal thyroid gland. CHNG4 is an autosomal recessive form characterized by isolated thyrotropin deficiency that, if untreated, results in severe growth retardation and intellectual disability. {ECO:0000269|PubMed:12364478, ECO:0000269|PubMed:1971148, ECO:0000269|PubMed:36001021}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Indispensable for the control of thyroid structure and metabolism.
uniprot
proteins
mass_dalton
15639
uniprot
proteins
protein_family
Glycoprotein hormones subunit beta family
uniprot
proteins
pubmed
12364478
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
19364510
uniprot
proteins
pubmed
1971148
uniprot
proteins
pubmed
2457586
uniprot
proteins
pubmed
3234176
uniprot
proteins
pubmed
3243440
uniprot
proteins
pubmed
36001021
uniprot
proteins
pubmed
3839756
uniprot
proteins
pubmed
8196184
uniprot
proteins
pubmed
890569
uniprot
proteins
sequence_length
138
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted.
uniprot
proteins