Matches in DBpedia 2014 for { <http://dbpedia.org/resource/KAL1_gene> ?p ?o. }
Showing items 1 to 41 of
41
with 100 items per page.
- KAL1_gene abstract "The KAL1 gene is a human gene which is located on the X chromosome at Xp22.3 and is affected in some individuals with Kallmann syndrome. This gene codes for a protein named anosmin-1, which is responsible for migration of certain nerve cell precursors during embryogenesis. Deletion or mutation of this gene results in loss of the functional protein and affects the proper development of the olfactory system. In addition, neural cells which produce GnRH fail to incorporate into the hypothalamus.Clinically, mutation results in the X-linked form of Kallmann syndrome. Individuals with Kallmann syndrome experience anosmia (lack of smell) and do not go through puberty (hypothalamic hypogonadotropic hypogonadism).The KAL1 gene is made of 14 exons and spans 120-200 kilobases. Mutation in the gene is responsible for 14% of the cases of familial Kallmann syndrome and 11% of cases of sporadic cases.".
- KAL1_gene arm "p".
- KAL1_gene band "22.32".
- KAL1_gene chromosome "X".
- KAL1_gene entrezgene "3730".
- KAL1_gene hgncid "6211".
- KAL1_gene omim "308700".
- KAL1_gene refseq "NM_000216".
- KAL1_gene symbol "KAL, ADMLX".
- KAL1_gene symbol "KAL1".
- KAL1_gene uniprot "P23352".
- KAL1_gene wikiPageExternalLink genatlas.
- KAL1_gene wikiPageExternalLink br.fcgi?book=gene&part=kms.
- KAL1_gene wikiPageExternalLink cat=Diseases&tab=lit.
- KAL1_gene wikiPageID "4950693".
- KAL1_gene wikiPageRevisionID "566689980".
- KAL1_gene altsymbols "KAL, ADMLX".
- KAL1_gene arm "p".
- KAL1_gene band "22.32".
- KAL1_gene chromosome "X".
- KAL1_gene entrezgene "3730".
- KAL1_gene hasPhotoCollection KAL1_gene.
- KAL1_gene hgncid "6211".
- KAL1_gene name "Kallmann syndrome 1 sequence".
- KAL1_gene omim "308700".
- KAL1_gene refseq "NM_000216".
- KAL1_gene symbol "KAL1".
- KAL1_gene uniprot "P23352".
- KAL1_gene subject Category:Human_genes.
- KAL1_gene type Biomolecule.
- KAL1_gene type Protein.
- KAL1_gene type ProteinMolecule.
- KAL1_gene type BiologicalObject.
- KAL1_gene comment "The KAL1 gene is a human gene which is located on the X chromosome at Xp22.3 and is affected in some individuals with Kallmann syndrome. This gene codes for a protein named anosmin-1, which is responsible for migration of certain nerve cell precursors during embryogenesis. Deletion or mutation of this gene results in loss of the functional protein and affects the proper development of the olfactory system.".
- KAL1_gene label "KAL1 gene".
- KAL1_gene sameAs m.0cwr4f.
- KAL1_gene sameAs Q6325034.
- KAL1_gene sameAs Q6325034.
- KAL1_gene wasDerivedFrom KAL1_gene?oldid=566689980.
- KAL1_gene isPrimaryTopicOf KAL1_gene.
- KAL1_gene name "Kallmann syndrome 1 sequence".