Gene: [08p/GNRH1] gonadotropin-releasing hormone 1 (GNRH1; gonadoliberin); luteinizing hormone, releasing hormone (LHRH; gonadoliberin); prolactin release-inhibiting factor; adrenal hypoplasia with absent luteinizing hormone? (MIM:202150); familial idiopathic hypogonadotropic hypogonadism (IHH; MIM:227200); [GNRH PIF LHRH ]
COM | It is assumed (Burke-1989) that adrenal hypoplasia with absent luteinizing hormone is related to the deficiency of pituitary luteinizing hormone (MIM:202150)." |
MOP | GNRH and prolactin release-inhibiting factor (PIF) are derived from the same 92-amino acid precursor protein, which is encoded by a single gene." |
HET | Waldstreicher-1996 reviewed detailed family histories of 106 cases of GNRH deficiency with or without anosmia (i.e., Kallman syndrome (GEM:0Xp2232/KAL1) or idiopathic hypogonadotropic hypogonadism (IHH). They concluded that the most cases of GNRH deficiency in humans are sporadic and defects in at least 2 autosomal genes can cause GNRH deficiency." |
REL | GEM:20p13/GNRH2; GEM:04q212/GNRHR. |
REF | IDN "Adelman JP &:
PNAS, 83, 179-183, 1986 PAT,PHE "Burke BA &: Am J Med Genet, 31, N1, 75-97, 1988 GEN,SEQ "Hayflick JS &: NAR, 17, 6403-6404, 1989 POL "Healey SC &: NAR, 19, N21, 6059, 1991 IDN "Radovick S &: Mol Endocrinol, 4, N3, 476-480, 1990 COD,SEQ,EXP "Seeburg PH, Adelman JP: Nature, 311, 666-668, 1984 REV,PAT,ASS,HET "Waldstreicher J &: J Clin Endocrinol Metab, 81, N12, 4388-4395, 1996 LOC "Williamson P &: CCG, 58, (HGM11), 1932, 1991a LOC "Williamson P &: Somat Cell Mol Genet, 17, N6, 609-615, 1991b LOC,CYG,MOL "Yang-Feng TL &: Somat Cell Genet, 12, 95-100, 1986 LOC "Yang-Feng TL &: CCG, 40, (HGM8), 785, 1985 |
SWI | SWISSPROT: P01148 |
KEY | horm, neu, sex |
CLA | coding, basic |
LOC | 08 p21-11.2 |
MIM | MIM: 152760 |
SYN | GNRH PIF LHRH |
