Sequence of this protein is as follows: METNCRKLVS ACVQLEKDKS QQGKNEDVGA EDPSKKKRQR RQRTHFTSQQ LQELEATFQR NRYPDMSTRE EIAVWTNLTE ARVRVWFKNR RAKWRKRERN QQAELCKNGF GPQFNGLMQP YDDMYPGYSY NNWAAKGLTS ASLSTKSFPF FNSMNVNPLS SQSMFSPPNS ISSMSMSSSM VPSAVTGVPG SSLNSLNNLN NLSSPSLNSA VPTPACPYAP PTPPYVYRDT CNSSLASLRL KAKQHSSFGY ASVQNPASNL SACQYAVDRP V
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