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GENE AND PROTEIN SUMMARY

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Gene name

ALX4

Description

ALX homeobox 4

Protein class

Mapped to UniProt SWISS-PROT, Transcription factors

Protein evidence

Medium

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]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

1 in total
0 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Pending subcellular analysis

NORMAL TISSUE & ORGAN SUMMARY

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Pending normal tissue analysis

CANCER TISSUE SUMMARY

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Pending cancer tissue analysis

CELL LINE SUMMARY

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RNA evidence

Low
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

A-431 Skin Not detected

-

-

A-549 Lung Low

-

-

CACO-2 Colon Not detected

-

-

HEK 293 Embryonal kidney Low

-

-

HeLa Cervix Not detected

-

-

Hep-G2 Liver Not detected

-

-

MCF-7 Pleural effusion Not detected

-

-

PC-3 Bone marrow Not detected

-

-

RT-4 Urinary bladder Not detected

-

-

U-2 OS Bone Low

-

-

U-251 MG Brain Low

-

-

ANTIBODY SUMMARY

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Pending antibodies