Paired box protein Pax-1 is a protein that in humans is encoded by the PAX1 gene. [5] [6]
Paired box protein Pax-1 is a protein that in humans is encoded by the PAX1 gene. [5] [6]
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 (CH3) 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, 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. [7] [8] [9] [10]
PAX1 has been shown to interact with MEOX1 [11] and MEOX2. [11]
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. It results in a limited ability to move the neck and shortness of the neck, resulting in the appearance of a low hairline.
In evolutionary developmental biology, Paired box (Pax) genes are a family of genes coding for tissue specific transcription factors containing an N-terminal paired domain and usually a partial, or in the case of four family members, a complete homeodomain to the C-terminus. An octapeptide as well as a Pro-Ser-Thr-rich C terminus may also be present. Pax proteins are important in early animal development for the specification of specific tissues, as well as during epimorphic limb regeneration in animals capable of such.
The PAX3 gene encodes a member of the paired box or PAX family of transcription factors. The PAX family consists of nine human (PAX1-PAX9) and nine mouse (Pax1-Pax9) members arranged into four subfamilies. Human PAX3 and mouse Pax3 are present in a subfamily along with the highly homologous human PAX7 and mouse Pax7 genes. The human PAX3 gene is located in the 2q36.1 chromosomal region, and contains 10 exons within a 100 kb region.
Growth differentiation factor 6 (GDF6) is a protein that in humans is encoded by the GDF6 gene.
Paired box gene 2, also known as Pax-2, is a protein which in humans is encoded by the PAX2 gene.
Usherin is a protein that in humans is encoded by the USH2A gene.
Usher syndrome type-1G protein is a protein that in humans is encoded by the USH1G gene.
Small nuclear ribonucleoprotein-associated protein N is a protein that in humans is encoded by the SNRPN gene.
Eyes absent homolog 1 is a protein that in humans is encoded by the EYA1 gene.
Gap junction beta-3 protein (GJB3), also known as connexin 31 (Cx31) — is a protein that in humans is encoded by the GJB3 gene.
Paired box gene 9, also known as PAX9, is a protein which in humans is encoded by the PAX9 gene. It is also found in other mammals.
Myosin-11 is a protein that in humans is encoded by the MYH11 gene.
Centrosomal protein of 290 kDa is a protein that in humans is encoded by the CEP290 gene. CEP290 is located on the Q arm of chromosome 12.
Homeobox protein Hox-D11 is a protein that in humans is encoded by the HOXD11 gene.
Homeobox protein MOX-2 is a protein that in humans is encoded by the MEOX2 gene.
Alpha-tectorin is a protein that in humans is encoded by the TECTA gene.
Nephrocystin-4 is a protein that in humans is encoded by the NPHP4 gene.
Homeobox protein MOX-1 is a protein that in humans is encoded by the MEOX1 gene.
Retinoic acid-induced protein 2 is a protein that in humans is encoded by the RAI2 gene.
Transcription factor AP-2 beta also known as AP2-beta is a protein that in humans is encoded by the TFAP2B gene.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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