ALX homeobox protein 1 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''ALX1''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
Function
The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain
mesenchyme
Mesenchyme () is a type of loosely organized animal embryonic connective tissue of undifferentiated cells that give rise to most tissues, such as skin, blood, or bone. The interactions between mesenchyme and epithelium help to form nearly ever ...
and may also be involved in development of the
cervix
The cervix (: cervices) or cervix uteri is a dynamic fibromuscular sexual organ of the female reproductive system that connects the vagina with the uterine cavity. The human female cervix has been documented anatomically since at least the time ...
. Mutations in the mouse gene lead to
neural tube defect
Neural tube defects (NTDs) are a group of birth defects in which an opening in the spine or cranium remains from early in human development. In the third week of pregnancy called gastrulation, specialized cells on the dorsal side of the embryo ...
s such as
acrania and
meroanencephaly.
In
Burmese cat
The Burmese cat (, , or , or , meaning copper colour) is a cat breed, breed of domestic cat, originating in Myanmar, Burma, believed to have its roots near the Myanmar–Thailand border, Thai–Burma border and developed in the United Sta ...
s, especially the lineage known as Contemporary Burmese, a deletion of four aminoacids in ALX1 is common. When heterozygous, the mutation causes
brachycephaly
Brachycephaly (derived from the Ancient Greek '' βραχύς'', 'short' and '' κεφαλή'', 'head') is the shape of a skull shorter than average in its species. It is perceived as a cosmetically desirable trait in some domesticated dog and ...
; when homozygous it causes a fatal head malformation known as
Burmese head defect.
In
Darwin's finches
Darwin's finches (also known as the Galápagos finches) are a group of about 18 species of passerine birds. They are well known for being a classic example of adaptive radiation and for their remarkable diversity in beak form and function. They ...
, inhabiting the Galapagos islands, ALX1 has been linked to the diversity of beak shapes.
Interactions
ALX1 has been shown to
interact with
IPO13
Importin-13 is a protein encoded by the IPO13 gene in humans. Importin-13 is a member of the importin-β family of nuclear transport receptors (NTRs) and was first identified as a transport receptor in 2000. According to PSI-blast based secondary ...
.
References
Further reading
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External links
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