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ALX4 (human)

Overview ALX4 Transcription factor involved in skull and limb development. Plays an essential role in craniofacial development, skin and hair follicle development. Defects in ALX4 are the cause of parietal foramina 2 (PFM2); also known as foramina parietalia permagna (FPP). PFM2 is an 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. Defects in ALX4 are the cause of frontonasal dysplasia type 2 (FND2). 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. Defects in ALX4 are a cause of Potocki-Shaffer syndrome (POSHS). A contiguous gene syndrome caused by deletion of the 11p11.2 region. Belongs to the paired homeobox family. Note: This description may include information from UniProtKB. Protein type: DNA binding protein Cellular Component: transcription factor complex; nucleus Molecular Function: DNA binding; protein heterodimerization activity; sequence-specific DNA binding; transcription factor activity Biological Process: embryonic forelimb morphogenesis; muscle development; transcription, DNA-dependent; palate development; embryonic hindlimb morphogenesis; post-embryonic development; embryonic skeletal morphogenesis; anterior/posterior pattern formation; regulation of apoptosis; hair follicle development; gut development; positive regulation of transcription from RNA polymerase II promoter; embryonic digit morphogenesis; skeletal development Reference #:  Q9H161 (UniProtKB) Alt. Names/Synonyms: ALX homeobox 4; ALX4; aristaless-like homeobox 4; Homeobox protein aristaless-like 4; homeodomain transcription factor ALX4; KIAA1788 Gene Symbols: ALX4 Molecular weight: 44,241 Da Basal Isoelectric point: 8.56  Predict pI for various phosphorylation states

Select Structure to View Below ALX4 2M0C - A=209-280 (human)

STRING  |  Scansite  |  Phospho.ELM  |  Pfam  |  RCSB PDB  |  DISEASE 168500 605420 609597  |  Source  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene

	Modification Sites and Domains

	Modification Sites in Parent Protein, Orthologs, and Isoforms

SS  SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.	MS  MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.			human
0	1		Y66-p	DAKSRARyGAGQQDL
0	1		S391-p	GEPDRKTssIAALRM
0	1		S392-p	EPDRKTssIAALRMK

	mouse
Y66	DAKSRARYGAGQQDL
S379	GEPDRKTSSIAALRM
S380	EPDRKTSSIAALRMK

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