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Mutations in KAL1 cause the X-linked Kallmann syndrome.
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Human KAL1 ELISA Kit for Sandwich ELISA - ABIN816739
Kanda, Shimizu, Fujii, Sueoka, Tanaka, Ezaka, Takami, Tanaka, Hashimoto, Iwata, Kobayashi, Tanaka, Yamada, Nakayama, Sugimoto, Koike, Fujiwara, Kodera: Function and diagnostic value of Anosmin-1 in gastric cancer progression. in International journal of cancer. Journal international du cancer 2015
Hemizygous mutations were identified in three Kallman syndrome cases: a novel splice acceptor site mutation leading to skipping of exon 5 in the ANOS1 transcript in a patient with self-reported normosmia (but hyposmic upon testing); a recurrent nonsense mutation and a novel 4.8 Mb deletion involving ANOS1 and eight other genes (VCX3B, VCX2, PNPLA4, VCX, STS, HDHD1, VCX3A and NLGN4X) in KS associated with ichthyosis.
This study presents the first experimental evidence indicating a molecular interaction between anosmin 1 and PKR2 (show PROKR2 ELISA Kits). A truncated anosmin 1 protein comprising the first three domains of the protein interacts with the second extracellular loop of PKR2 (show PROKR2 ELISA Kits), involved in PK2 (show PROK2 ELISA Kits) binding.
Anosmin-1 over-expression regulates oligodendrocyte precursor cell proliferation, migration and myelin sheath thickness. Data confirmed the involvement of (A1) works as a chemotropic cue contributing to axonal outgrowth and in oligodendrogliogenesis and its relevance for myelination.
two novel variants, KAL1 (c.146G>T (p.Cys49Phe)) and mitochondrial tRNAcys (m.5800A>G), were identified in a large Han Chinese family with inherited Kallmann syndrome; although two variants can't exert obvious effects on the migration of GnRH neurons, they show a synergistic effect, which can account for the occurrence of the disorder in this family
FGF receptor 1-mediated anosmin-1 activity plays a crucial role in the continuous remodelling of the adult olfactory bulb.
Study reports 2 new mutations in KAL1 gene from patients with septo-optic dysplasia proven to be loss-of-function.
data indicated KAL1 plays potential suppressive role on OSCC initiation and progression. KAL1 gene may serve as adjuvant biomarker for identification of pathological grade.
Kallmann syndrome with FGFR1 (show FGFR1 ELISA Kits) and KAL1 mutations was detected during fetal life
Our analyses show that the two phenotypes in our patient are due to independent genetic defects: a genomic rearrangement involving the KAL1 gene and a point mutation of the steryl-sulfatase (show STS ELISA Kits) gene.
Results indicated that KAL1 may act as a putative tumor suppressor in hepatocellular carcinoma (HCC) and is inactivated by promoter hypermethylation. KAL1 may serve as a biomarker of malignant phenotype of HCC.
Mutations in this gene cause the X-linked Kallmann syndrome. The encoded protein is similar in sequence to proteins known to function in neural cell adhesion and axonal migration. In addition, this cell surface protein is N-glycosylated and may have anti-protease activity.
Kallmann syndrome 1 sequence
, Kallmann syndrome interval gene 1
, Kallmann syndrome-1 sequence (anosmin-1)
, WAP four-disulfide core domain 19
, adhesion molecule-like X-linked
, kallmann syndrome protein
, kallmann syndrome protein homolog
, WAP four-disulfide core domain protein 18
, extracellular peptidase inhibitor
, extracellular proteinase inhibitor