ALX4

GENE INFORMATION

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Gene name

ALX4 (HGNC Symbol)

Synonyms

FPP, KIAA1788, PFM, PFM2

Description

ALX homeobox 4 (HGNC Symbol)

Entrez 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, mental retardation, 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]

Chromosome

11 (Chromosome progress)

Cytoband

p11.2

Chromosome location (bp)

44281994 - 44331716

Ensembl

ENSG00000052850 (version 73.37)

Entrez gene

60529

UniProt

Q9H161 (UniProt - Evidence at protein level)

neXtProt

NX_Q9H161

Antibodypedia

ALX4 antibodies
 

PROTEIN VIEW

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ALX4-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ALX4-001 ENSP00000332744
ENST00000329255
Q9H161
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