CHM (gene)

Choroideremia (Rab escort protein 1), also known as CHM, is a human gene.cite web | title = Entrez Gene: CHM choroideremia (Rab escort protein 1)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1121| accessdate = ]

PBB_Summary
section_title =
summary_text = The choroideremia gene encodes for a protein, the Rab escort protein-1 (REP1), which is involved in membrane trafficking. [supplied by OMIM] cite web | title = Entrez Gene: CHM choroideremia (Rab escort protein 1)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1121| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Sankila EM, Tolvanen R, van den Hurk JA, "et al." |title=Aberrant splicing of the CHM gene is a significant cause of choroideremia. |journal=Nat. Genet. |volume=1 |issue= 2 |pages= 109–13 |year= 1993 |pmid= 1302003 |doi= 10.1038/ng0592-109
*cite journal | author=Molloy CM, van de Pol TJ, Brohet RM, "et al." |title=Three RFLPs for pZ11 (DXS540) in the choroideremia gene at Xq21.2. |journal=Nucleic Acids Res. |volume=20 |issue= 6 |pages= 1434 |year= 1992 |pmid= 1373238 |doi=
*cite journal | author=Merry DE, Jänne PA, Landers JE, "et al." |title=Isolation of a candidate gene for choroideremia. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=89 |issue= 6 |pages= 2135–9 |year= 1992 |pmid= 1549574 |doi=
*cite journal | author=van den Hurk JA, van de Pol TJ, Molloy CM, "et al." |title=Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing. |journal=Am. J. Hum. Genet. |volume=50 |issue= 6 |pages= 1195–202 |year= 1992 |pmid= 1598901 |doi=
*cite journal | author=Fodor E, Lee RT, O'Donnell JJ |title=Analysis of choroideraemia gene. |journal=Nature |volume=351 |issue= 6328 |pages= 614 |year= 1991 |pmid= 1904992 |doi= 10.1038/351614b0
*cite journal | author=Cremers FP, van de Pol DJ, van Kerkhoff LP, "et al." |title=Cloning of a gene that is rearranged in patients with choroideraemia. |journal=Nature |volume=347 |issue= 6294 |pages= 674–7 |year= 1990 |pmid= 2215697 |doi= 10.1038/347674a0
*cite journal | author=Cremers FP, Sankila EM, Brunsmann F, "et al." |title=Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases. |journal=Am. J. Hum. Genet. |volume=47 |issue= 4 |pages= 622–8 |year= 1990 |pmid= 2220804 |doi=
*cite journal | author=Donnelly P, Menet H, Fouanon C, "et al." |title=Missense mutation in the choroideremia gene. |journal=Hum. Mol. Genet. |volume=3 |issue= 6 |pages= 1017 |year= 1994 |pmid= 7951216 |doi=
*cite journal | author=Alexandrov K, Horiuchi H, Steele-Mortimer O, "et al." |title=Rab escort protein-1 is a multifunctional protein that accompanies newly prenylated rab proteins to their target membranes. |journal=EMBO J. |volume=13 |issue= 22 |pages= 5262–73 |year= 1994 |pmid= 7957092 |doi=
*cite journal | author=van Bokhoven H, van den Hurk JA, Bogerd L, "et al." |title=Cloning and characterization of the human choroideremia gene. |journal=Hum. Mol. Genet. |volume=3 |issue= 7 |pages= 1041–6 |year= 1995 |pmid= 7981670 |doi=
*cite journal | author=Cremers FP, Armstrong SA, Seabra MC, "et al." |title=REP-2, a Rab escort protein encoded by the choroideremia-like gene. |journal=J. Biol. Chem. |volume=269 |issue= 3 |pages= 2111–7 |year= 1994 |pmid= 8294464 |doi=
*cite journal | author=Seabra MC, Brown MS, Goldstein JL |title=Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase. |journal=Science |volume=259 |issue= 5093 |pages= 377–81 |year= 1993 |pmid= 8380507 |doi=
*cite journal | author=Schwartz M, Rosenberg T, van den Hurk JA, "et al." |title=Identification of mutations in Danish choroideremia families. |journal=Hum. Mutat. |volume=2 |issue= 1 |pages= 43–7 |year= 1993 |pmid= 8477262 |doi= 10.1002/humu.1380020108
*cite journal | author=Overmeyer JH, Wilson AL, Erdman RA, Maltese WA |title=The putative "switch 2" domain of the Ras-related GTPase, Rab1B, plays an essential role in the interaction with Rab escort protein. |journal=Mol. Biol. Cell |volume=9 |issue= 1 |pages= 223–35 |year= 1998 |pmid= 9437002 |doi=
*cite journal | author=Alexandrov K, Simon I, Iakovenko A, "et al." |title=Moderate discrimination of REP-1 between Rab7 x GDP and Rab7 x GTP arises from a difference of an order of magnitude in dissociation rates. |journal=FEBS Lett. |volume=425 |issue= 3 |pages= 460–4 |year= 1998 |pmid= 9563513 |doi=
*cite journal | author=Raffaniello RD, Raufman JP |title=Cytosolic RAB3D is associated with RAB escort protein (REP), not RAB-GDP dissociation inhibitor (GDI), in dispersed chief cells from guinea pig stomach. |journal=J. Cell. Biochem. |volume=72 |issue= 4 |pages= 540–8 |year= 1999 |pmid= 10022613 |doi=
*cite journal | author=Thomä NH, Iakovenko A, Kalinin A, "et al." |title=Allosteric regulation of substrate binding and product release in geranylgeranyltransferase type II. |journal=Biochemistry |volume=40 |issue= 1 |pages= 268–74 |year= 2001 |pmid= 11141079 |doi=
*cite journal | author=Syed N, Smith JE, John SK, "et al." |title=Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia. |journal=Ophthalmology |volume=108 |issue= 4 |pages= 711–20 |year= 2001 |pmid= 11297488 |doi=
*cite journal | author=Rak A, Reents R, Pylypenko O, "et al." |title=Crystallization and preliminary X-ray diffraction analysis of the Rab escort protein-1 in complex with Rab geranylgeranyltransferase. |journal=J. Struct. Biol. |volume=136 |issue= 2 |pages= 158–61 |year= 2002 |pmid= 11886217 |doi= 10.1006/jsbi.2001.4433
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899

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