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Choroideremia (/ k ɒ ˌ r ɔɪ d ɪ ˈ r iː m i ə /; CHM) is a rare, X-linked recessive form of hereditary retinal degeneration that affects roughly 1 in 50,000 males. The disease causes a gradual loss of vision, starting with childhood night blindness , followed by peripheral vision loss and progressing to loss of central vision later in life.
Choroideremia-deafness-obesity syndrome This condition is inherited in an X-linked recessive manner. Ayazi syndrome (or Chromosome 21 Xq21 deletion syndrome ) [ 1 ] is a syndrome characterized by choroideremia , congenital deafness and obesity .
12662 Ensembl ENSG00000188419 ENSMUSG00000025531 UniProt P24386 Q9QXG2 RefSeq (mRNA) NM_000390 NM_001037312 NM_001145414 NM_001320959 NM_001362517 NM_001362518 NM_001362519 NM_152579 NM_018818 NM_001370788 NM_001370789 NM_001370790 RefSeq (protein) NP_000381 NP_001138886 NP_001307888 NP_001349446 NP_001349447 NP_001349448 n/a Location (UCSC) Chr X: 85.86 – 86.05 Mb Chr X: 111.95 – 112.1 Mb ...
Choroideremia is caused by a loss-of-function mutation in the CHM gene which codes for Rab escort protein (REP-1). REP-1 and REP-2 (a REP-1 like protein) both help with the prenylation and transport of Rab proteins. [6] Rab27 has been found to preferentially depend on REP-1 for prenylation, which could be the underlying cause of choroideremia. [7]
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