Sequence of this protein is as follows: MNCMKGPLHL EHRAAGTKLS AVSSSSCHHP QPLAMASVLA PGQPRSLDSS KHRLEVHTIS DTSSPEAAEK DKSQQGKNED VGAEDPSKKK RQRRQRTHFT SQQLQELEAT FQRNRYPDMS TREEIAVWTN LTEARVRVWF KNRRAKWRKR ERNQQAELCK NGFGPQFNGL MQPYDDMYPG YSYNNWAAKG LTSASLSTKS FPFFNSMNVN PLSSQSMFSP PNSISSMSMS SSMVPSAVTG VPGSSLNSLN NLNNLSSPSL NSAVPTPACP YAPPTPPYVY RDTCNSSLAS LRLKAKQHSS FGYASVQNPA SNLSACQYAV DRPV
Pilx2 is a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. This protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. It plays a role in the terminal differentiation of somatotroph and lactotroph cell phenotypes, is involved in the development of the eye, tooth and abdominal organs, and acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. Mutations in this protein are associated with Axenfeld-Rieger syndrome, iridogoniodysgenesis syndrome, and sporadic cases of Peters anomaly. A similar protein in other vertebrates is involved in the determination of left-right asymmetry during development.
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Protein Aliases: all1-responsive gene 1; ALL1-responsive protein ARP1; Homeobox protein PITX2; paired-like homeodomain 2; Paired-like homeodomain transcription factor 2; Pituitary homeobox 2; RIEG bicoid-related homeobox transcription factor; rieg bicoid-related homeobox transcription factor 1; S a 1 glycoprotein; S a1glycoprotein; S alpha 1 glycoprotein; S α 1 glycoprotein; S α1glycoprotein; Solurshin
Gene Aliases: ARP1; Brx1; IDG2; IGDS; IGDS2; IHG2; IRID2; Otlx2; PITX2; PTX2; RGS; RIEG; RIEG1; RS
UniProt ID: (Human) Q99697
Entrez Gene ID: (Human) 5308
Molecular Function: homeodomain transcription factor