NP_008913.2
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
36,961 Da
NCBI Official Full Name
ALX homeobox protein 1
NCBI Official Synonym Full Names
ALX homeobox 1
NCBI Protein Information
ALX homeobox protein 1; CART-1; epididymis luminal protein 23; cartilage paired-class homeoprotein 1
UniProt Protein Name
ALX homeobox protein 1
UniProt Synonym Protein Names
Cartilage homeoprotein 1; CART-1
UniProt Synonym Gene Names
UniProt Entry Name
ALX1_HUMAN
NCBI Summary for ALX1
The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube defects such as acrania and meroanencephaly. [provided by RefSeq, Jul 2008]
UniProt Comments for ALX1
Cart1: Transcriptional activator that acts at a palindromic recognition sequence to enhance the activity of the SV40 and TK promoters. Functions as a repressor with the prolactin promoter in vivo. May play a role in chondrocyte differentiation and may also influence cervix development. Defects in ALX1 are the cause of frontonasal dysplasia type 3 (FND3). The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline. Belongs to the paired homeobox family.
Protein type: DNA-binding
Chromosomal Location of Human Ortholog: 12q21.31
Cellular Component: nucleoplasm; Golgi apparatus; transcription factor complex; nucleus
Molecular Function: protein binding; protein heterodimerization activity; transcription factor activity; transcription corepressor activity
Biological Process: transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; multicellular organismal development; negative regulation of transcription from RNA polymerase II promoter; palate development; embryonic skeletal morphogenesis; anterior/posterior pattern formation; neural tube closure; positive regulation of transcription from RNA polymerase II promoter; brain development; mesenchymal cell development; cartilage condensation; embryonic limb morphogenesis
Disease: Frontonasal Dysplasia 3
Research Articles on ALX1
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with ALX1 elisa kit
Diseases associated with ALX1 elisa kit
Organs/Tissues associated with ALX1 elisa kit
|