Alx1 Gene Search Result

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3 records found for search term Alx1

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
732877	ALX1	ALX homeobox 1	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. ... (more) [provided by RefSeq, Jul 2008]	12	85280220	85301784	Human	202	symbol , COSMIC , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
68545	BCAM	basal cell adhesion molecule (Lutheran blood group)	This gene encodes Lutheran blood group glycoprotein, a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five extracellular immunoglobulin domains, a single transmembrane domain, and a short C-terminal cytoplasmic tail. This p ... (more) rotein may play a role in epithelial cell cancer and in vaso-occlusion of red blood cells in sickle cell disease. Polymorphisms in this gene define some of the antigens in the Lutheran system and also the Auberger system. Inactivating variants of this gene result in the recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood group. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]	19	44809059	44821421	Human	134	GenBank Protein	gene, protein-coding, REVIEWED [RefSeq]
1319723	KLF1	KLF transcription factor 1	This gene encodes a hematopoietic-specific transcription factor that induces high-level expression of adult beta-globin and other erythroid genes. The zinc-finger protein binds to the DNA sequence CCACACCCT found in the beta hemoglobin promoter. Heterozygous loss-of-function mutations in this gene r ... (more) esult in the dominant In(Lu) blood phenotype. [provided by RefSeq, Oct 2009]	19	12884422	12887201	Human	173	GenBank Protein	gene, protein-coding, REVIEWED [RefSeq]