RABBIT ANTI GLI3

GLI3

Phosphate buffered saline pH7. 2

Synthetic peptide corresponding to amino acid sequence 41-57 of human Gli3 protein.

Plays a role in limb and brain development. Implicated in the transduction of SHH signal By similarity. Subcellular locationNucleus. Tissue specificityIs expressed in a wide variety of normal adult tissues including lung colon spleen placenta testis and myometrium. Involvement in diseaseDefects in GLI3 are the cause of Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700]. GCPS is an autosomal dominant disorder affecting limb and craniofacial development. It is characterized by pre- and postaxial polydactyly syndactyly of fingers and toes macrocephaly and hypertelorism. Ref. 2Ref. 9Ref. 12Defects in GLI3 are a cause of Pallister-Hall syndrome (PHS) [MIM:146510]. PHS is characterized by a wide range of clinical manifestations. It mainly associates central or postaxial polydactyly syndactyly and hypothalamic hamartoma. Malformations are frequent in the viscera e. g. anal atresia bifid uvula congenital heart malformations pulmonary or renal dysplasia. It is an autosomal dominant disorder. Defects in GLI3 are a cause of type A1/B postaxial polydactyly (PAPA1/PAPB) [MIM:174200 MIM:603596]. PAPA in humans is an autosomal dominant trait characterized by an extra digit in the ulnar and/or fibular side of the upper and/or lower extremities. The extra digit is well formed and articulates with the fifth or extra metacarpal/metatarsal and thus it is usually functional. Ref. 10Defects in GLI3 are a cause of type IV preaxial polydactyly [MIM:174700]. Preaxial polydactyly (i. e. polydactyly on the radial/tibial side of the hand/foot) covers a heterogeneous group of entities. In preaxial polydactyly type IV the thumb shows only the mildest degree of duplication and syndactyly of various degrees affects fingers 3 and 4. Defects in GLI3 are the cause of acrocallosal syndrome (ACS) [MIM:200990]; also abbreviated ACLS. ACS is characterized by postaxial polydactyly hallux duplication macrocephaly and absence of the corpus callosum usually with severe developmental delay. Ref. 11Sequence similaritiesBelongs to the GLI C2H2-type zinc-finger protein family. Contains 5 C2H2-type zinc fingers. Sequence cautionThe sequence AAA52564. 1 differs from that shown. Reason: Frameshift at position 1549. 1. Weber K. et al. (1983) Neurofilaments a subclass of intermediate filaments: structure and expression. C. S. H. Symp. Quant. Biol. 48: 717-729. 2. Anderton B. H. et al. (1982) Monoclonal antibodies show that neurofibrillary tangles and neurofilaments share antigenic determinants. Nature 298: 84-86. 3. Johnstone M. et al. (1997) The neurofilament antibody RT97 recognises a developmentally regulated phosphorylation epitope on microtubule associated protein 1B. J. Anat. 191: 229-244. 4. Tonge D. A. et al. (1996) Expression of a developmentally regulated phosphorylated form of microtulate - associated protein B in sprouting and regenerating axons in vitro. Neuroscience. 73: 541 - 551. 5. Sann H. et al. (1995) RT97: a marker for capsaicin-insensitive sensory endings in the rat skin. Cell Tissue Res. 282: 155 - 161. [1] \" Partial sequence of the rat heavy neurofilament polypeptide (NF-H). Identification of putative phosphorylation sites. \" Breen K. C. Robinson P. A. Wion D. Anderton B. H. FEBS Lett. 241:213-218(1988) [PubMed: 3143606] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Brain. [2] \" Transfected rat high-molecular-weight neurofilament (NF-H) coassembles with vimentin in a predominantly nonphosphorylated form. \" Chin S. S. Liem R. K. J. Neurosci. 10:3714-3726(1990) [PubMed: 2230956] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA]. [3] \" Isolation of a cDNA for the rat heavy neurofilament polypeptide (NF-H). \" Robinson P. A. Wion D. Anderton B. H. FEBS Lett. 209:203-205(1986) [PubMed: 2878828] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 230-318 AND 472-554. [4] \" The large neurofilament subunit (NF-H) of the rat: cDNA cloning and in situ detection. \" Dautigny A. Pham-Dinh D. Roussel C. Felix J. M. Nussbaum J. -L. Jolles P. Biochem. Biophys. Res. Commun. 154:1099-1106(1988) [PubMed: 2457365] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 266-1072. [5] Lubec G. Pradeep J. J. P. Afjehi-Sadat L. Kang S. U. Submitted (JUL-2007) to UniProtKBCited for: PROTEIN SEQUENCE OF 39-52; 165-178; 229-256; 272-290; 349-368; 389-399 AND 401-424 MASS SPECTROMETRY. Strain: Sprague-Dawley. Tissue: Brain and Spinal cord. [6] \" Cloning of a cDNA encoding the rat high molecular weight neurofilament peptide (NF-H): developmental and tissue expression in the rat and mapping of its human homologue to chromosomes 1 and 22. \" Lieberburg I. Spinner N. Snyder S. Anderson J. Goldgaber D. Smulowitz M. Carroll Z. Emanuel B. S. Breitner J. Rubin L. Proc. Natl. Acad. Sci. U. S. A. 86:2463-2467(1989) [PubMed: 2928342] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 559-1072. [7] \" Rat heavy neurofilament (NF-H) polypeptide. \" Alliel P. M. Langlois C. Submitted (MAY-2002) to the EMBL/GenBank/DDBJ databasesCited for: NUCLEOTIDE SEQUENCE [MRNA] OF 559-1072. Tissue: Brain.