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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