LBX1
entrez
10660
canonical
uniprot
P52954
canonical
ensembl
ENSG00000138136
resolver
ensp
ENSP00000359212
resolver
ensp
ENSP00000615884
resolver
ensp
ENSP00000615885
resolver
enst
ENST00000370193
resolver
enst
ENST00000945825
resolver
enst
ENST00000945826
resolver
genesymbol
LBX1
resolver
genesymbol_syn
LBX1H
resolver
hgnc
HGNC:16960
resolver
uniprot
B9EGA2
resolver
uniprot
Q05BB2
resolver
uniprot_entry
LBX1_HUMAN
resolver
uniprot_sec
B9EGA2
resolver
uniprot_sec
Q05BB2
resolver
amino_acid_sequence
MTSKEDGKAAPGEERRRSPLDHLPPPANSNKPLTPFSIEDILNKPSVRRSYSLCGAAHLLAAADKHAQGGLPLAGRALLSQTSPLCALEELASKTFKGLEVSVLQAAEGRDGMTIFGQRQTPKKRRKSRTAFTNHQIYELEKRFLYQKYLSPADRDQIAQQLGLTNAQVITWFQNRRAKLKRDLEEMKADVESAKKLGPSGQMDIVALAELEQNSEATAGGGGGCGRAKSRPGSPVLPPGAPKAPGAGALQLSPASPLTDQPASSQDCSEDEEDEEIDVDD
uniprot
proteins
disease_involvement
DISEASE: Central hypoventilation syndrome, congenital, 3 (CCHS3) [MIM:619483]: A form of congenital central hypoventilation syndrome, a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular, lung or cardiac disease, or an identifiable brainstem lesion. CCHS3 is an autosomal recessive, neonatal form characterized by slow and shallow breathing due to a deficiency in autonomic control of respiration. Affected individuals present with respiratory insufficiency and absence of the hypercapnic reflex that stimulates breathing. Additional features include gastrointestinal problems, poor heat tolerance and paroxysmal hypertension. {ECO:0000269|PubMed:30487221}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor required for the development of GABAergic interneurons in the dorsal horn of the spinal cord and migration and further development of hypaxial muscle precursor cells for limb muscles, diaphragm and hypoglossal cord. {ECO:0000250}.
uniprot
proteins
mass_dalton
30221
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
30487221
uniprot
proteins
pubmed
8645601
uniprot
proteins
sequence_length
281
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
uniprot
proteins