Paired box protein Pax-1 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
that in humans is encoded by the ''PAX1''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
Function
This gene is a member of the paired box (
PAX) family of transcription factors which are essential during fetal development. It is required for the development of the ventral vertebral column. Its expression is limited to the pharyngeal pouches and the cells that surround the developing vertebrae near the top where the head will be established to help give rise to the neck and the start of the formation of the shoulders and arm buds. Cancers, such as ovarian and cervical cancers, add a methyl (CH
3) group which silences, or disables, the gene which may be able to suppress the tumor by regulating when other cells divide and increase. A substitution or deletion of this gene in mice can produce variants of the mutant ''undulated'' which is characterized by segmentation abnormalities along the inner spine. Mutations in the human gene may contribute to the condition of
Klippel–Feil syndrome
Klippel–Feil syndrome (KFS), also known as cervical vertebral fusion syndrome, is a rare congenital condition characterized by the abnormal fusion of any two of the seven bones in the neck (cervical vertebrae). It results in a limited ability ...
, which is the failure of the vertebrae to segment near the top of the spine and possibly further down with symptoms including a short, immovable neck and a low hairline on the back of the head.
Interactions
PAX1 has been shown to
interact
Advocates for Informed Choice, doing business as, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex trai ...
with
MEOX1 and
MEOX2
Homeobox protein MOX-2 is a protein that in humans is encoded by the ''MEOX2'' gene.
Function
This gene encodes a member of a subfamily of non-clustered, diverged, antennapedia-like homeobox-containing genes. The encoded protein may play a rol ...
.
[
]
See also
* Pax genes
Pax or PAX may refer to:
Peace
* Peace (Latin: ''pax'')
** Pax (goddess), the Roman goddess of peace
** Pax, a truce term
* Pax (liturgy), a salutation in Catholic and Lutheran religious services
* Pax (liturgical object), an object formerly ki ...
References
Further reading
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External links
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Transcription factors
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