ALX4 Gene (Protein Coding)

ALX Homeobox 4

GC11M044238
GIFtS:
39
This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized by deficient ossification of the parietal bones. Mutations in this gene also cause a form of frontonasal dysplasia with alope... See more...

Aliases for ALX4 Gene

Aliases for ALX4 Gene

  • ALX Homeobox 4 2 3 5
  • Homeobox Protein Aristaless-Like 4 3 4
  • Aristaless-Like Homeobox 4 2 3
  • KIAA1788 2 4
  • Homeodomain Transcription Factor ALX4 3
  • Parietal Foramina 2 2
  • CRS5 3
  • FND2 3
  • ALX4 5
  • FPP 2
  • PFM 2

External Ids for ALX4 Gene

Previous HGNC Symbols for ALX4 Gene

  • PFM2

Previous GeneCards Identifiers for ALX4 Gene

  • GC11P045601
  • GC11M044967
  • GC11M044321
  • GC11M044246
  • GC11M043991

Summaries for ALX4 Gene

Entrez Gene Summary for ALX4 Gene

  • This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized by deficient ossification of the parietal bones. Mutations in this gene also cause a form of frontonasal dysplasia with alopecia and hypogonadism; suggesting a role for this gene in craniofacial development, mesenchymal-epithelial communication, and hair follicle development. Deletion of a segment of chromosome 11 containing this gene, del(11)(p11p12), causes Potocki-Shaffer syndrome (PSS); a syndrome characterized by craniofacial anomalies, cognitive disability, multiple exostoses, and genital abnormalities in males. In mouse, this gene has been shown to use dual translation initiation sites located 16 codons apart. [provided by RefSeq, Oct 2009]

GeneCards Summary for ALX4 Gene

ALX4 (ALX Homeobox 4) is a Protein Coding gene. Diseases associated with ALX4 include Frontonasal Dysplasia 2 and Parietal Foramina 2. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is ALX1.

UniProtKB/Swiss-Prot Summary for ALX4 Gene

  • Transcription factor involved in skull and limb development. Plays an essential role in craniofacial development, skin and hair follicle development.

Gene Wiki entry for ALX4 Gene

Additional gene information for ALX4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ALX4 Gene

Genomics for ALX4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ALX4 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH11J044308 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 615.9 +0.3 338 1.2 ZNF512 MTA2 POLR2A REST EZH2 NRF1 ZBTB44 MGA GTF2E2 UBTF ALX4 lnc-EXT2-2 EXT2
GH11J044310 Enhancer 0.4 ENCODE 600.7 -0.4 -387 0.2 ZNF512 EZH2 GTF2E2 ALX4 lnc-EXT2-2 piR-48222-061 CD82
GH11J044334 Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas 12.2 -24.1 -24122 2.4 LEF1 IKZF1 JUND PRDM1 DDX20 MTA2 PKNOX1 ZNF24 POLR2A MTA1 ALX4 HSD17B12 piR-48222-061 CD82
GH11J044337 Enhancer 0.7 FANTOM5 CraniofacialAtlas 14 -27.7 -27712 1.2 IKZF1 MGA TFDP1 IRF9 RNF2 ZKSCAN8 PKNOX1 ALX4 HSD17B12 piR-48222-061 CD82
GH11J044299 Enhancer 0.7 Ensembl 12.9 +8.6 8644 1.8 JUND ZIC2 CEBPB SP1 SMARCC1 EGR1 ESR1 CTBP1 NR3C1 ESRRA lnc-EXT2-2 ALX4 EXT2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ALX4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ALX4

Top Transcription factor binding sites by QIAGEN in the ALX4 gene promoter:
  • FOXC1
  • GATA-1
  • Lhx3a
  • LHX3b
  • MyoD
  • MZF-1
  • NF-kappaB
  • NF-kappaB1
  • Pax-3
  • POU6F1 (c2)

Genomic Locations for ALX4 Gene

Genomic Locations for ALX4 Gene
chr11:44,260,440-44,310,139
(GRCh38/hg38)
Size:
49,700 bases
Orientation:
Minus strand
chr11:44,281,994-44,331,716
(GRCh37/hg19)
Size:
49,723 bases
Orientation:
Minus strand

Genomic View for ALX4 Gene

Genes around ALX4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALX4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALX4 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ALX4 Gene

Proteins for ALX4 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for ALX4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H161-ALX4_HUMAN
    Recommended name:
    Homeobox protein aristaless-like 4
    Protein Accession:
    Q9H161
    Secondary Accessions:
    • Q96JN7
    • Q9H198
    • Q9HAY9

    Protein attributes for ALX4 Gene

    Size:
    411 amino acids
    Molecular mass:
    44241 Da
    Quaternary structure:
    • Binds DNA.
    SequenceCaution:
    • Sequence=AAG23961.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAB47417.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ALX4 Gene

neXtProt entry for ALX4 Gene

Protein Expression for ALX4 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ALX4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALX4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ALX4 Gene

Domains & Families for ALX4 Gene

Gene Families for ALX4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ALX4 Gene

InterPro:
Blocks:
  • Paired-like homeodomain protein, OAR
ProtoNet:

Suggested Antigen Peptide Sequences for ALX4 Gene

GenScript: Design optimal peptide antigens:
  • Homeobox protein aristaless-like 4 (ALX4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H161

UniProtKB/Swiss-Prot:

ALX4_HUMAN :
  • Belongs to the paired homeobox family.
Family:
  • Belongs to the paired homeobox family.
genes like me logo Genes that share domains with ALX4: view

Function for ALX4 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
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  6. Cell Line

Molecular function for ALX4 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor involved in skull and limb development. Plays an essential role in craniofacial development, skin and hair follicle development.

Phenotypes From GWAS Catalog for ALX4 Gene

Gene Ontology (GO) - Molecular Function for ALX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA,IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA,IBA 21873635
GO:0003677 DNA binding NAS 11137991
GO:0003700 DNA-binding transcription factor activity IEA --
genes like me logo Genes that share ontologies with ALX4: view
genes like me logo Genes that share phenotypes with ALX4: view

Human Phenotype Ontology for ALX4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ALX4 Gene

MGI Knock Outs for ALX4:

Animal Model Products

CRISPR Products

miRNA for ALX4 Gene

miRTarBase miRNAs that target ALX4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALX4

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ALX4 Gene

Localization for ALX4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALX4 Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALX4 gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ALX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IBA,NAS 11137991
GO:0005654 nucleoplasm IDA --
GO:0005667 transcription factor complex IEA --
genes like me logo Genes that share ontologies with ALX4: view

Pathways & Interactions for ALX4 Gene

PathCards logo

SuperPathways for ALX4 Gene

No Data Available

Interacting Proteins for ALX4 Gene

Selected Interacting proteins: Q9H161-ALX4_HUMAN for ALX4 Gene via UniProtKB IID

GPS-Prot Interaction Network for ALX4

SIGNOR curated interactions for ALX4 Gene

Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for ALX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development NAS 11106354
GO:0001942 hair follicle development IMP 19692347
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with ALX4: view

No data available for Pathways by source for ALX4 Gene

Drugs & Compounds for ALX4 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for ALX4 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ALX4 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALX4

Alternative Splicing Database (ASD) splice patterns (SP) for ALX4 Gene

No ASD Table

Relevant External Links for ALX4 Gene

GeneLoc Exon Structure for
ALX4

Expression for ALX4 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ALX4 Gene

mRNA expression in normal human tissues for ALX4 Gene
mRNA expression by BioGPS for ALX4 GenemRNA expression by GTEx for ALX4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ALX4 Gene

This gene is overexpressed in Breast - Mammary Tissue (x10.9), Skin - Not Sun Exposed (Suprapubic) (x6.5), and Skin - Sun Exposed (Lower leg) (x4.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ALX4 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ALX4

SOURCE GeneReport for Unigene cluster for ALX4 Gene:

Hs.436055

mRNA Expression by UniProt/SwissProt for ALX4 Gene:

Q9H161-ALX4_HUMAN
Tissue specificity: Expression is likely to be restricted to bone. Found in parietal bone.

Evidence on tissue expression from TISSUES for ALX4 Gene

  • Nervous system(4.4)
  • Bone(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ALX4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • scalp
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
  • penis
  • placenta
  • testicle
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with ALX4: view

No data available for Protein differential expression in normal tissues and Protein tissue co-expression partners for ALX4 Gene

Orthologs for ALX4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ALX4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia ALX4 30 31
  • 94.12 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ALX4 30 31
  • 91.1 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia ALX4 30 31
  • 90.35 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Alx4 30
  • 88.47 (n)
Mouse
(Mus musculus)
 Mammalia Alx4 30 17 31
  • 88.39 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia ALX4 31
  • 79 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia ALX4 31
  • 58 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves ALX4 30
  • 79.37 (n)
ALX-4 31
  • 77 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ALX4 31
  • 84 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia alx4 30
  • 72.1 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.16593 30
Zebrafish
(Danio rerio)
 Actinopterygii alx4a 30 31
  • 70.33 (n)
 OneToMany
alx4b 31
  • 63 (a)
 OneToMany
Species where no ortholog for ALX4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ALX4 Gene

ENSEMBL:
Gene Tree for ALX4 (if available)
TreeFam:
Gene Tree for ALX4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ALX4: view image

Paralogs for ALX4 Gene

Paralogs for ALX4 Gene

(6) SIMAP similar genes for ALX4 Gene using alignment to 1 proteins:

  • ALX4_HUMAN
genes like me logo Genes that share paralogs with ALX4: view

Variants for ALX4 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ALX4 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
708114 Likely Benign: not provided 44,267,485(-) G/A INTRON_VARIANT
710007 Benign: Parietal foramina 2; not provided 44,265,172(-) C/T SYNONYMOUS_VARIANT
721962 Likely Benign: Parietal foramina 2; not provided 44,264,908(-) C/T SYNONYMOUS_VARIANT
723592 Likely Benign: not provided 44,309,603(-) A/T MISSENSE_VARIANT
723770 Likely Benign: Parietal foramina 2; not provided 44,265,055(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ALX4 Gene

Structural Variations from Database of Genomic Variants (DGV) for ALX4 Gene

Variant ID Type Subtype PubMed ID
dgv344e212 CNV loss 25503493
dgv67n21 CNV loss 19592680
esv2761670 CNV loss 21179565
esv3547679 CNV deletion 23714750
esv3579500 CNV loss 25503493
esv3626160 CNV loss 21293372
nsv832139 CNV loss 17160897

Variation tolerance for ALX4 Gene

Residual Variation Intolerance Score: 46.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.33; 98.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ALX4 Gene

Human Gene Mutation Database (HGMD)
ALX4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALX4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALX4 Gene

Disorders for ALX4 Gene

MalaCards: The human disease database

(32) MalaCards diseases for ALX4 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
frontonasal dysplasia 2
  • fnd2
parietal foramina 2
  • foramina parietalia permagna
craniosynostosis 5
  • craniosynostosis 5, susceptibility to
parietal foramina
  • pfm
potocki-shaffer syndrome
  • pss
- elite association - COSMIC cancer census association via MalaCards
Search ALX4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ALX4_HUMAN
  • 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 mutations affecting the gene represented in this entry.
  • 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 mutations affecting the gene represented in this entry.
  • Potocki-Shaffer syndrome (POSHS) [MIM:601224]: A syndrome characterized by foramina parietalia permagna, multiple exostoses, and craniofacial dysostosis and mental retardation in some cases. {ECO:0000305 PubMed:11017806, ECO:0000305 PubMed:11903336}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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 variations affecting the gene represented in this entry.

Additional Disease Information for ALX4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ALX4: view

No data available for Genatlas for ALX4 Gene

Publications for ALX4 Gene

  1. Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome. (PMID: 11017806) Wu YQ … Shaffer LG (American journal of human genetics 2000) 2 3 4 23
  2. ALX4 dysfunction disrupts craniofacial and epidermal development. (PMID: 19692347) Kayserili H … Akarsu NA (Human molecular genetics 2009) 3 4 23
  3. The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500). (PMID: 11106354) Wuyts W … Van Hul W (Journal of medical genetics 2000) 3 4 23
  4. ALX4 gain-of-function mutations in nonsyndromic craniosynostosis. (PMID: 22829454) Yagnik G … Boyadjiev SA (Human mutation 2012) 3 4
  5. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A … Murray JC (PloS one 2010) 3 41

ExternalLinks

View latest publications for ALX4 gene in Mastermind

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