ALX3
entrez
257
canonical
uniprot
O95076
canonical
ensembl
ENSG00000156150
resolver
ensp
ENSP00000497310
resolver
enst
ENST00000647563
resolver
genesymbol
ALX3
resolver
hgnc
HGNC:449
resolver
uniprot
O95075
resolver
uniprot
Q5T8M4
resolver
uniprot_entry
ALX3_HUMAN
resolver
uniprot_sec
O95075
resolver
uniprot_sec
Q5T8M4
resolver
amino_acid_sequence
MDPEHCAPFRVGPAPGPYVASGDEPPGPQGTPAAAPHLHPAPPRGPRLTRFPACGPLEPYLPEPAKPPAKYLQDLGPGPALNGGHFYEGPAEAEEKTSKAASFPQLPLDCRGGPRDGPSNLQGSPGPCLASLHLPLSPGLPDSMELAKNKSKKRRNRTTFSTFQLEELEKVFQKTHYPDVYAREQLALRTDLTEARVQVWFQNRRAKWRKRERYGKIQEGRNPFTAAYDISVLPRTDSHPQLQNSLWASPGSGSPGGPCLVSPEGIPSPCMSPYSHPHGSVAGFMGVPAPSAAHPGIYSIHGFPPTLGGHSFEPSSDGDYKSPSLVSLRVKPKEPPGLLNWTT
uniprot
proteins
disease_involvement
DISEASE: Frontonasal dysplasia 1 (FND1) [MIM:136760]: The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline. {ECO:0000269|PubMed:19409524}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcriptional regulator with a possible role in patterning of mesoderm during development. {ECO:0000250}.
uniprot
proteins
mass_dalton
36935
uniprot
proteins
protein_family
Paired homeobox family
uniprot
proteins
pubmed
11807986
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
19409524
uniprot
proteins
sequence_length
343
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
uniprot
proteins