KAL1 - Kallmann syndrome 1 sequence

Human Kidney Gene DataBase

Name

Kallmann syndrome 1 sequence

Symbol

KAL1

Aliases

HHA; KAL; KMS; ADMLX; KALIG-1; Kallmann syndrome-1 sequence (anosmin-1)

Gene Product

Kallmann syndrome 1 protein

Category

Deletion in System Syndrom with Kidney Involvment
Mutation in System Syndrom with Kidney Involvment

UniGene

Hs.380850

Reference Sequence

mRNA: NM_000216

Protein: NP_000207

OMIM and SNP

OMIM: 308700

SNP: NCBI SNP

Locus

LocusLink: 3730

Chromosome: X

Cytoband: Xp22.32

UCSC Genome Map

Eesembl Genome Map

Summary

Mutations in the KAL1 gene cause the X-linked Kallmann syndrome. The predictated KAL1 protein sequence is similar to proteins known to function in neural cell adhesion and axonal migration.

Gene Ontology

cellular component: extracellular matrix
cellular component: extracellular space
molecular function: extracellular matrix structural constituent
molecular function: serine-type endopeptidase inhibitor activity
molecular function: protein binding
biological process: chemotaxis
biological process: cell adhesion
biological process: cell motility
biological process: axon guidance

Expression

EST (98 ESTs, 47 libraries)
Tissue	Breadth ?	CPM ?
brain
cartilage
embryo
eye
heart
kidney
lung
mammary gland
muscle
oral cavity
ovary
parathyroid
placenta
prostate
testis
uncharacterized tissue
whole body

Evidence

Deletion in System Syndrom with Kidney Involvment

Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns JP, Van de Ven W, Thakker RV, Devriendt K, Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns JP, Van de Ven W, Thakker RV, Devriendt K GATA3 haplo-insufficiency causes human HDR syndrome. Nature 2000 Jul 27;406(6794):419-22.

Mutation in System Syndrom with Kidney Involvment

Zenteno JC, Mendez JP, Maya-Nunez G, Ulloa-Aguirre A, Kofman-Alfaro S, Zenteno JC, Mendez JP, Maya-Nunez G, Ulloa-Aguirre A, Kofman-Alfaro S Renal abnormalities in patients with Kallmann syndrome. BJU Int 1999 Mar;83(4):383-6.
Colquhoun-Kerr JS, Gu WX, Jameson JL, Withers S, Bode HH X-linked Kallmann syndrome and renal agenesis occurring together andindependently in a large Australian family. Am J Med Genet 1999 Mar 5;83(1):23-7.
Nagata K, Yamamoto T, Chikumi H, Ikeda T, Yamamoto H, Hashimoto K, Yoneda K, Nanba E, Ninomiya H, Ishitobi K, Nagata K, Yamamoto T, Chikumi H, Ikeda T, Yamamoto H, Hashimoto K, Yoneda K, Nanba E, Ninomiya H, Ishitobi K A novel interstitial deletion of KAL1 in a Japanese family with Kallmannsyndrome. J Hum Genet 2000;45(4):237-40.

Other key publications related to this gene