ALX4
entrez
60529
canonical
uniprot
Q9H161
canonical
ensembl
ENSG00000052850
resolver
ensp
ENSP00000498217
resolver
enst
ENST00000652299
resolver
genesymbol
ALX4
resolver
genesymbol_syn
KIAA1788
resolver
hgnc
HGNC:450
resolver
uniprot
Q96JN7
resolver
uniprot
Q9H198
resolver
uniprot
Q9HAY9
resolver
uniprot_entry
ALX4_HUMAN
resolver
uniprot_sec
Q96JN7
resolver
uniprot_sec
Q9H198
resolver
uniprot_sec
Q9HAY9
resolver
amino_acid_sequence
MNAETCVSYCESPAAAMDAYYSPVSQSREGSSPFRAFPGGDKFGTTFLSAAAKAQGFGDAKSRARYGAGQQDLATPLESGAGARGSFNKFQPQPSTPQPQPPPQPQPQQQQPQPQPPAQPHLYLQRGACKTPPDGSLKLQEGSSGHSAALQVPCYAKESSLGEPELPPDSDTVGMDSSYLSVKEAGVKGPQDRASSDLPSPLEKADSESNKGKKRRNRTTFTSYQLEELEKVFQKTHYPDVYAREQLAMRTDLTEARVQVWFQNRRAKWRKRERFGQMQQVRTHFSTAYELPLLTRAENYAQIQNPSWLGNNGAASPVPACVVPCDPVPACMSPHAHPPGSGASSVTDFLSVSGAGSHVGQTHMGSLFGAASLSPGLNGYELNGEPDRKTSSIAALRMKAKEHSAAISWAT
uniprot
proteins
disease_involvement
DISEASE: Parietal foramina 2 (PFM2) [MIM:609597]: Autosomal dominant disease characterized by oval defects of the parietal bones caused by deficient ossification around the parietal notch, which is normally obliterated during the fifth fetal month. PFM2 is also a clinical feature of Potocki-Shaffer syndrome. {ECO:0000269|PubMed:11106354, ECO:0000269|PubMed:11137991}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Frontonasal dysplasia 2 (FND2) [MIM:613451]: 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:19692347}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Potocki-Shaffer syndrome (POSHS) [MIM:601224]: A syndrome characterized by foramina parietalia permagna, multiple exostoses, and craniofacial dysostosis, and intellectual disability in some cases. {ECO:0000305|PubMed:11017806, ECO:0000305|PubMed:11903336}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Craniosynostosis 5 (CRS5) [MIM:615529]: A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. {ECO:0000269|PubMed:22829454}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor involved in skull and limb development. Plays an essential role in craniofacial development, skin and hair follicle development. {ECO:0000269|PubMed:19692347}.
uniprot
proteins
mass_dalton
44241
uniprot
proteins
protein_family
Paired homeobox family
uniprot
proteins
pubmed
11017806
uniprot
proteins
pubmed
11106354
uniprot
proteins
pubmed
11137991
uniprot
proteins
pubmed
11347906
uniprot
proteins
pubmed
11903336
uniprot
proteins
pubmed
19692347
uniprot
proteins
pubmed
22829454
uniprot
proteins
pubmed
23186163
uniprot
proteins
sequence_length
411
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000255|PROSITE-ProRule:PRU00138, ECO:0000269|PubMed:19692347}.
uniprot
proteins