Property Summary

NCBI Gene PubMed Count 61
Grant Count 61
R01 Count 16
Funding $8,375,456.58
PubMed Score 282.35
PubTator Score 274.88

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (15)

Disease log2 FC p
gastric cancer 1.100 0.000
astrocytic glioma -1.500 0.019
ependymoma -1.300 0.046
oligodendroglioma -1.400 0.046
osteosarcoma 2.444 0.002
glioblastoma 1.400 0.001
atypical teratoid / rhabdoid tumor -1.400 0.000
medulloblastoma -1.400 0.000
medulloblastoma, large-cell -2.100 0.000
primitive neuroectodermal tumor -1.200 0.000
tuberculosis and treatment for 3 months -1.200 0.000
lung cancer 1.100 0.034
pediatric high grade glioma 1.500 0.000
lung carcinoma 1.400 0.000
Gaucher disease type 1 -1.500 0.012

Synonym

Accession P24386 A1L4D2 O43732
Symbols TCD
GGTA
REP-1
DXS540
HSD-32

Gene

CHM

PANTHER Protein Class (2)

Gene RIF (34)

PMID Text
26720468 The family segregated a REP1 mutation, suggesting choroideremia (CHM).
26216097 We report a novel CHM mutation, c.1475_1476insCA, identified by whole-exome sequencing in a family with X-linked CHM initially diagnosed as retinitis pigmentosa.
25912515 Six previously reported and five novel CHM mutations were detected in 11 Australian families clinically diagnosed with choroideremia.
24913019 Sanger sequencing confirmed the mutations in CHM, including four novel (c.558_559delTT, c.964G>T, c.966delA, c.1166+2T>G) and two known (c.7031G>A and c.1584_1587delTGTT) mutations.
24672218 the clinical and molecular findings of an Italian family with a new mutation in the choroideremia (CHM) gene, are reported.
23940504 Data found pathogenic DNA variants in the genes RP1, USH2A, CNGB3, NMNAT1, CHM, and ABCA4, responsible for retinitis pigmentosa, Usher syndrome, achromatopsia, Leber congenital amaurosis, choroideremia, or recessive Stargardt/cone-rod dystrophy cases.
23273018 While likely an uncommon event, duplication within the CHM gene could be considered as an explanation for CHM cases in which no mutation is found by sequence analysis.
22965595 These findings demonstrate a novel CHM mutation that emphasizes severe posterior pole carrier phenotypes, age-related changes, and early choroideremia disease.
22355242 In Mainland Chinese families, the central visual acuity of male patients with CHM can be affected at an early age (second decade), whereas female CHM carriers may manifest signs and symptoms at a later age (>/= 45 years).
22025891 A novel mutation was detected in CHM gene in family 1. Another mutation within exon 14 of CHM was identified in family 2. The mutations caused night blindness, chorioretinal atrophy, and bareness of the sclera.
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AA Sequence

MADTLPSEFDVIVIGTGLPESIIAAACSRSGRRVLHVDSRSYYGGNWASFSFSGLLSWLKEYQENSDIVS      1 - 70
DSPVWQDQILENEEAIALSRKDKTIQHVEVFCYASQDLHEDVEEAGALQKNHALVTSANSTEAADSAFLP     71 - 140
TEDESLSTMSCEMLTEQTPSSDPENALEVNGAEVTGEKENHCDDKTCVPSTSAEDMSENVPIAEDTTEQP    141 - 210
KKNRITYSQIIKEGRRFNIDLVSKLLYSRGLLIDLLIKSNVSRYAEFKNITRILAFREGRVEQVPCSRAD    211 - 280
VFNSKQLTMVEKRMLMKFLTFCMEYEKYPDEYKGYEEITFYEYLKTQKLTPNLQYIVMHSIAMTSETASS    281 - 350
TIDGLKATKNFLHCLGRYGNTPFLFPLYGQGELPQCFCRMCAVFGGIYCLRHSVQCLVVDKESRKCKAII    351 - 420
DQFGQRIISEHFLVEDSYFPENMCSRVQYRQISRAVLITDRSVLKTDSDQQISILTVPAEEPGTFAVRVI    421 - 490
ELCSSTMTCMKGTYLVHLTCTSSKTAREDLESVVQKLFVPYTEMEIENEQVEKPRILWALYFNMRDSSDI    491 - 560
SRSCYNDLPSNVYVCSGPDCGLGNDNAVKQAETLFQEICPNEDFCPPPPNPEDIILDGDSLQPEASESSA    561 - 630
IPEANSETFKESTNLGNLEESSE                                                   631 - 653
//

Text Mined References (63)

PMID Year Title
26720468 2015 Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities.
26216097 2015 Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa.
25912515 2015 Genetic analysis of choroideremia families in the Australian population.
25722215 2015 Large gene deletion and changes in corneal endothelial cells in a family with choroideremia.
24913019 2014 Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa.
24672218 2014 Clinical and genetic studies in a family with a new splice-site mutation in the choroideremia gene.
24556642 2014 Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23940504 2013 Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.
23273018 2013 Copy number variant analysis in CHM to detect duplications underlying choroideremia.
More...