KEGG VARIANT: 84634v1

VARIANT: 84634v1

Entry

84634v1                      Variant

Name

KISS1R inactivaing mutation

Type

Loss of function

Gene

KISS1R KISS1 receptor [KO:K08374]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutation L148S
ClinVar: 5755
dbSNP: rs28939719

Variation

mutation R331Ter
ClinVar: 5756
dbSNP: rs104894701

Variation

mutation Ter399R
ClinVar: 5757
dbSNP: rs104894702

Variation

mutation L102P
ClinVar: 5759
dbSNP: rs104894703

Network

nt06323 KISS1-GnRH-LH/FSH-E2 signaling

Disease

H00255

Hypogonadotropic hypogonadism

Reference

PMID:22376279

Authors

Dedes I

Title

Kisspeptins and the control of gonadotrophin secretion.

Journal

Syst Biol Reprod Med 58:121-8 (2012)
DOI:10.3109/19396368.2011.651555

Reference

PMID:21193544

Authors

Nimri R, Lebenthal Y, Lazar L, Chevrier L, Phillip M, Bar M, Hernandez-Mora E, de Roux N, Gat-Yablonski G

Title

A novel loss-of-function mutation in GPR54/KISS1R leads to hypogonadotropic hypogonadism in a highly consanguineous family.

Journal

J Clin Endocrinol Metab 96:E536-45 (2011)
DOI:10.1210/jc.2010-1676

Reference

PMID:20816945

Authors

Silveira LG, Tusset C, Latronico AC

Title

Impact of mutations in kisspeptin and neurokinin B signaling pathways on human reproduction.

Journal

Brain Res 1364:72-80 (2010)
DOI:10.1016/j.brainres.2010.08.087

Reference

PMID:19770291

Authors

Oakley AE, Clifton DK, Steiner RA

Title

Kisspeptin signaling in the brain.

Journal

Endocr Rev 30:713-43 (2009)
DOI:10.1210/er.2009-0005

Reference

PMID:20374724

Authors

Teles MG, Silveira LF, Bianco S, Latronico AC

Title

Human diseases associated with GPR54 mutations.

Journal

Prog Mol Biol Transl Sci 88:33-56 (2009)
DOI:10.1016/S1877-1173(09)88002-2

LinkDB

DBGET integrated database retrieval system