ALX4 - ALX homeobox 4 Gene

Homo sapiens

Also known as CRS5; FND2

Gene ID: 60529 | Gene type: protein coding

About ALX4

Cytogenetic location: 11p11.2 Genomic coordinates (GRCh38): 11:44,260,440-44,310,139 (from NCBI)

This gene has 1 transcript (splice variant), 257 orthologues, 50 paralogues and is associated with 9 phenotypes. Low expression observed in reference dataset.

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. [provided by RefSeq, Oct 2009]

ALX4 Products(1)

mRNA	Protein	Name
NM_021926.4	NP_068745.2	homeobox protein aristaless-like 4

ALX4 Protein Structure

Homeobox

OAR

0
100
200
300
411 a.a.

Protein Preferred Names

Protein Names

homeobox protein aristaless-like 4

aristaless-like homeobox 4

Related Diseases

Diseases

Alias

Frontonasal Dysplasia 2

FND2	Frontonasal Dysplasia With Alopecia And Genital Anomaly
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alx4-Related Fndag
Craniofrontonasal Dysplasia With Alopecia And Hypogonadism	Frontonasal Dysplasia Type 2
Frontonasal Dysplasia With Alopecia And Genital Abnomality	Doid:0081046
Dysplasia, Frontonasal, Type 2

Parietal Foramina 2

PFM2	Foramina Parietalia Permagna
Fpp	Foramina, Parietal, Type 2

Craniosynostosis 5

Craniosynostosis 5, Susceptibility To	CRS5
Craniosynostosis, Type 5, Susceptibility To

Parietal Foramina

Enlarged Parietal Foramina	Hereditary Cranium Bifidum
Symmetric Parietal Foramina	Catlin Marks
Foramina Parietalia Permagna	Caitlin Marks
Cranium Bifidum	Cranium Bifidum Occultum
Fenestrae Parietals Symmetricae	Fpp
Giant Parietal Foramina	Pfm
Fenestrae Parietales Symmetricae	Foramina, Parietal

Potocki-Shaffer Syndrome

Proximal 11p Deletion Syndrome	Chromosome 11p11.2 Deletion Syndrome
Pss	11p11.2 Deletion
P11pds	Defect11 Syndrome
Deletion Of Chromosome 11p11.2	POSHS

Non-Syndromic Sagittal Craniosynostosis

Isolated Sagittal Craniosynostosis	Isolated Scaphocephaly
Non-Syndromic Sagittal Suture Synostosis

Frontonasal Dysplasia 1

Frontorhiny	Frontonasal Dysplasia
Fnd	Frontonasal Malformation
Fnm	Median Facial Cleft Syndrome
Midline Facial Cleft	FND1
Median Cleft Face Syndrome	Median Cleft Syndrome
Frontonasal Dysplasia Sequence	Median Facial Cleft
Tessier Number 0-14 And 30 Facial Cleft	Alx3-Related Frontonasal Dysplasia
Frontonasal Dysplasia Type 1	Isolated Median Cleft Face Syndrome
Doid:0081044	Doid:0081045
Dysplasia, Frontonasal, Type

Dysostosis

Dysostoses

Hypertelorism, Microtia, Facial Clefting Syndrome

Hmc Syndrome	Bixler Christian Gorlin Syndrome
Bixler-Christian-Gorlin Syndrome	Hypertelorism-Microtia-Facial Clefting Syndrome
Bixler Syndrome	Hypertelorism-Microtia-Clefting Syndrome
Hypertelorism Microtia Facial Clefting Syndrome

Widow'S Peak

Widow'S Peak Syndrome

Widow'S Peak, Ptosis, And Skeletal Anomalies

Craniosynostosis

Premature Closure Of Cranial Sutures	Craniostenosis
Craniosynostosis Syndrome	Cso
Craniosynostoses	Congenital Ossification Of Cranial Sutures
Congenital Ossification Of Sutures Of Skull	Craniostosis
Imperfect Fusion Of Skull	Congenital Imperfect Closure Skull
Imperfect Closure Skull	Premature Closure Cranium Sutures
Deficiency Of Craniofacial Axis

Facial Cleft

Craniofacial Cleft

Craniofacial Clefts

Baastrup'S Syndrome

Kissing Spine	Baastrup Syndrome
Kissing Spine, Site Unspecified	Osteoarthrosis Interspinalis
Overriding Of Dorsal Spinous Processes	Localised Idiopathic Skeletal Hyperostosis
Baastrup Disease

Zygodactyly 1

Zd1	Zygodactyly Type 1
Sd1, Weidenreich Type	Sd1a
Syndactyly Type 1, Weidenreich Type	Syndactyly Type 1a
Zygodactyly, Weidenreich Type

Brachydactyly, Type A2

Brachydactyly Type A2	BDA2
Mohr-Wriedt Type Brachydactyly	Brachymesophalangy Ii
Brachymesophalangy Type 2	Brachymesophalangy 2
Brachydactyly, Mohr-Wriedt Type	Brachydactyly A2

Coloboma Of Optic Nerve

Morning Glory Disc Anomaly	Coloboma Of Optic Disc
Morning Glory Syndrome	Ectasic Coloboma
Coloboma Of Optic Papilla	Congenital Coloboma Of The Optic Nerve
Optic Nerve Coloboma	Optic Nerve Head Pits, Bilateral Congenital
Volubilis Syndrome	COLON
Coloboma Of Optic Disc, Unspecified Eye	Congenital Coloboma Of Optic Disc
Optic Disk Coloboma

Craniofrontonasal Syndrome

Craniofrontonasal Dysplasia	CFNS
Cfnd	Craniofrontonasal Dysostosis
Craniofrontonasal Dystosis	Dysplasia, Craniofrontonasal

Hypertrichosis Universalis Congenita, Ambras Type

Ambras Syndrome	Hypertrichosis, Congenital Generalized
HTC1	HTC2
Chromosome Xq27.1 Interchromosomal Insertion Syndrome	Cgh
Hcg	Ambras Type Hypertrichosis Universalis Congenita
X-Linked Congenital Generalized Hypertrichosis	Congenital Generalized Hypertrichosis, Macias-Flores Type
Macias Flores-Garcia Cruz-Rivera Syndrome	Htc 1
Hypertrichosis Universalis Congenita Ambras Type	Hypertrichosis Congenital Generalized X-Linked
Macias-Flores Garcia-Cruz Rivera Syndrome	Congenital Generalized Hypertrichosis, Ambras Type

Saethre-Chotzen Syndrome

SCS	Acs3
Acs Iii	Chotzen Syndrome
Acrocephaly, Skull Asymmetry, And Mild Syndactyly	Acrocephalosyndactyly Type 3
Acrocephalosyndactyly, Type Iii	Acrocephalosyndactyly Type Iii
Saethre-Chotzen Syndrome With Or Without Eyelid Anomalies	Auralcephalosyndactyly
Acs 3	Acrocephalo-Syndactyly, Type 3
Blepharophimosis,Epicanthus Inversus, And Ptosis 3	Aural Cephalosyndactyly
Kurczynski-Casperson Syndrome	Acrocephalosyndactyly Iii
Dysostosis Craniofacialis With Hypertelorism	Saethre-Chotzen Syndrome, With/Without Eyelid Anomalies
Sakati Syndrome

Chromosome 2q35 Duplication Syndrome

Syndactyly	Syndactyly Type 1
Sdty1	Zygodactyly
Syndactyly, Type I	Sd1
Syndactyly, Type 1, With Or Without Craniosynostosis	Symphalangism
Non-Syndromic Syndactyly	Symphalangy
Webbing Of Digits	Syndactyly, Type 1

Syndactyly, Type Iv

Syndactyly Type 4	Polysyndactyly, Haas Type
SDTY4	Haas Type Syndactyly
Sd4	Polysyndactyly Type Haas
Syndactyly 4	Polysyndactyly Haas Type
Syndactyly Type Iv

Omphalocele

Omphalocoele	Congenital Omphalocele
Exomphalos	Exumbilication

Cleft Palate, Isolated

Cleft Palate	Isolated Cleft Palate
CPI	Cp
Palatoschisis	Cleft Palate Isolated
Uranostaphyloschisis	Congenital Fissure Of Palate
Cleft Of Secondary Palate

Apert Syndrome

Acrocephalosyndactyly Type I	Acs1
Acrocephalosyndactylia	Acrocephalosyndactyly
Acs I	Apert-Crouzon Disease
Acrocephalosyndactyly Type 1	Acrocephalosyndactyly, Type I
Acs 1	Acrocephalo-Syndactyly Type 1
Syndactylic Oxycephaly	Apert'S Syndrome
Type I Acrocephalosyndactyly	APRS

Dystonia 16

DYT16	Dyt-Prkra
Dystonia-16	Young-Onset Dystonia-
Early-Onset Dystonia Parkinsonism	Dystonia, Type 16

Trichorhinophalangeal Syndrome, Type Ii

Langer-Giedion Syndrome	Lgs
Trichorhinophalangeal Syndrome Type Ii	Trichorhinophalangeal Syndrome Type 2
TRPS2	Monosomy 8q24.1
Chromosome 8q24.1 Deletion Syndrome	Deletion 8q24.1
Giedion-Langer Syndrome	Trichorhinophalangeal Dysplasia Type Ii
Langer Giedion Syndrome	Trps 2
Tricho-Rhino-Phalangeal Syndrome Type Ii	Trichorhinophalangeal Syndrome With Exostosis
Trps Ii	Tricho-Rhino-Phalangeal Syndrome 2
8q24.1 Microdeletion Syndrome	8q24.1 Deletion Syndrome

Congenital Ptosis

Congenital Blepharoptosis

Congenital Eyelid Ptosis

Crouzon Syndrome

Crouzon Craniofacial Dysostosis	Craniofacial Dysostosis
Cfd1	Craniofacial Dysostosis Type 1
Crouzon Disease	Crouzon'S Disease
Craniofacial Dysostosis, Type I	Craniofacial Dysarthrosis
Craniofacial Dysostosis Syndrome	CS
Craniofacial Dysostosis Type I	Vogt Cephalosyndactyly

Synostosis

Optic Nerve Hypoplasia, Bilateral

Optic Nerve Hypoplasia	Bilateral Optic Nerve Hypoplasia
Optic Nerve Hypoplasia, Familial Bilateral	Familial Bilateral Optic Nerve Hypoplasia
Isolated Optic Nerve Hypoplasia/Aplasia	Optic Nerve Aplasia, Bilateral
Onh	BONH
Bilateral Optic Nerve Aplasia	Hypoplasia, Optic Nerve, Bilateral

Meckel Syndrome, Type 1

Meckel-Gruber Syndrome	Meckel Syndrome
Dysencephalia Splanchnocystica	Meckel Syndrome 1
MKS1	Mks
Gruber Syndrome	Meckel-Gruber Syndrome, Type 1
Mes	Dysencephalia Splachnocystica
Meckel Gruber Syndrome	Meckel Syndrome Type 1

Orofacial Cleft

Cleft, Orofacial

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00638	ALX4 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ALX4	VGNC	VGNC:107419
Mus musculus	ALX4	MGD	MGI:108359
Felis catus	ALX4	VGNC	VGNC:67429
Rattus norvegicus	ALX4	RGD	RGD:1310201
Canis familiaris	ALX4	VGNC	VGNC:37822