Paired-like homeodomain 1 is a
protein that in humans is encoded by the PITX1gene.[5][6][7]
Function
This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family are involved in organ development and left-right asymmetry. This protein acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin.[7]
Genomic rearrangements at the PITX1 locus are associated with
Liebenberg syndrome.[11] In PITX1 Liebenberg is associated with a
translocation or
deletions, which cause insert promoter groups into the PITX1 locus.[11] A
missense mutation within the PITX1 locus is associated with the development of autosomal dominant clubfoot.[9]
Hiroi N, Kino T, Bassett M, Rainey WE, Phung M, Abu-Asab M, Fojo T, Briata P, Chrousos GP, Bornstein SR (May 2003). "Pituitary homeobox factor 1, a novel transcription factor in the adrenal regulating steroid 11beta-hydroxylase". Hormone and Metabolic Research. 35 (5): 273–8.
doi:
10.1055/s-2003-41301.
PMID12915995.
S2CID260168691.
Kolfschoten IG, van Leeuwen B, Berns K, Mullenders J, Beijersbergen RL, Bernards R, Voorhoeve PM, Agami R (June 2005). "A genetic screen identifies PITX1 as a suppressor of RAS activity and tumorigenicity". Cell. 121 (6): 849–58.
doi:
10.1016/j.cell.2005.04.017.
hdl:1874/17813.
PMID15960973.
S2CID18065721.
Lord RV, Brabender J, Wickramasinghe K, DeMeester SR, Holscher A, Schneider PM, Danenberg PV, DeMeester TR (November 2005). "Increased CDX2 and decreased PITX1 homeobox gene expression in Barrett's esophagus and Barrett's-associated adenocarcinoma". Surgery. 138 (5): 924–31.
doi:
10.1016/j.surg.2005.05.007.
PMID16291394.
Picard C, Azeddine B, Moldovan F, Martel-Pelletier J, Moreau A (September 2007). "New emerging role of pitx1 transcription factor in osteoarthritis pathogenesis". Clinical Orthopaedics and Related Research. 462: 59–66.
doi:
10.1097/BLO.0b013e3180d09d9c.
PMID17549029.
S2CID8232057.
Paired-like homeodomain 1 is a
protein that in humans is encoded by the PITX1gene.[5][6][7]
Function
This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family are involved in organ development and left-right asymmetry. This protein acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin.[7]
Genomic rearrangements at the PITX1 locus are associated with
Liebenberg syndrome.[11] In PITX1 Liebenberg is associated with a
translocation or
deletions, which cause insert promoter groups into the PITX1 locus.[11] A
missense mutation within the PITX1 locus is associated with the development of autosomal dominant clubfoot.[9]
Hiroi N, Kino T, Bassett M, Rainey WE, Phung M, Abu-Asab M, Fojo T, Briata P, Chrousos GP, Bornstein SR (May 2003). "Pituitary homeobox factor 1, a novel transcription factor in the adrenal regulating steroid 11beta-hydroxylase". Hormone and Metabolic Research. 35 (5): 273–8.
doi:
10.1055/s-2003-41301.
PMID12915995.
S2CID260168691.
Kolfschoten IG, van Leeuwen B, Berns K, Mullenders J, Beijersbergen RL, Bernards R, Voorhoeve PM, Agami R (June 2005). "A genetic screen identifies PITX1 as a suppressor of RAS activity and tumorigenicity". Cell. 121 (6): 849–58.
doi:
10.1016/j.cell.2005.04.017.
hdl:1874/17813.
PMID15960973.
S2CID18065721.
Lord RV, Brabender J, Wickramasinghe K, DeMeester SR, Holscher A, Schneider PM, Danenberg PV, DeMeester TR (November 2005). "Increased CDX2 and decreased PITX1 homeobox gene expression in Barrett's esophagus and Barrett's-associated adenocarcinoma". Surgery. 138 (5): 924–31.
doi:
10.1016/j.surg.2005.05.007.
PMID16291394.
Picard C, Azeddine B, Moldovan F, Martel-Pelletier J, Moreau A (September 2007). "New emerging role of pitx1 transcription factor in osteoarthritis pathogenesis". Clinical Orthopaedics and Related Research. 462: 59–66.
doi:
10.1097/BLO.0b013e3180d09d9c.
PMID17549029.
S2CID8232057.