Gene: [05p1/GHR] growth hormone receptor; pituitary dwarfism II (Laron type; MIM:262500); [GHBP LTD LS ]

COM

The OMIM registers the GHR gene with location in 5p13-12.

FAG

[1] According to Arden-1989,1990, growth hormone receptor and prolactin receptor (encoded by the gene located on the same segment; see GEM:05p1/PRLR) are thought to belong to the same gene family.
[2] The growth hormone and functionally related peptides are coded by genes clustered on Chr 17q2 (GEM:17q2/GH1)."

HET

The OMIM have registered 4 main forms of pituitary dwarfism (as phenotypes with independent inheritance) and two atypical forms (independent inheritance not proved). All of them are autosomal recessive. In addition to them, autosomal dominant and X-linked types are mentioned (GEM:0Xq2/PHP)."

REF

LOC,MOL,FAG "Arden &: CCG, 53, 161-165, 1990
LOC,MOL,FAG "Arden &: AJHG, 45, A129, 1989
LOC,EAG,HUM,MOU "Barton DE &: CCG, 50, 137-141, 1989
IDN,PRO,COD,EXP "Leung DW &: Nature, 330, 537-543, 1987

SWI

SWISSPROT: P10912

KEY

recp, horm

CLA

coding, basic

LOC

05 p14-12

MIM

MIM: 600946

SYN

GHBP LTD LS

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