Gene: ALX4

Alternate names for this Gene: CRS5|FND2

Gene Summary: 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.

Gene is located in Chromosome: 11

Location in Chromosome : 11p11.2

Description of this Gene: ALX homeobox 4

Type of Gene: protein-coding

rs10769025 in ALX4 gene and Arthritis, Gouty PMID 22179738 2012 Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences.

rs267606653 in ALX4 gene and Dysmorphic features PMID 22829454 2012 ALX4 gain-of-function mutations in nonsyndromic craniosynostosis.

PMID 19692347 2009 ALX4 dysfunction disrupts craniofacial and epidermal development.

PMID 11137991 2001 Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects.

PMID 16319823 2006 Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

PMID 11017806 2000 Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome.

PMID 11106354 2000 The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500).

rs10769025 in ALX4 gene and Gout PMID 22179738 2012 Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences.

rs10742700 in ALX4 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs10769025 in ALX4 gene and Major Depressive Disorder PMID 29998114 2018 Association of Novel ALX4 Gene Polymorphisms with Antidepressant Treatment Response: Findings from the CO-MED Trial.

rs267606653 in ALX4 gene and Multiple congenital anomalies PMID 11017806 2000 Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome.

PMID 11137991 2001 Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects.

PMID 16319823 2006 Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

PMID 19692347 2009 ALX4 dysfunction disrupts craniofacial and epidermal development.

PMID 22829454 2012 ALX4 gain-of-function mutations in nonsyndromic craniosynostosis.

PMID 11106354 2000 The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500).

rs104894193 in ALX4 gene and PARIETAL FORAMINA 2 PMID 11106354 2000 The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500).

PMID 11137991 2001 Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects.