Mikrozefalina

MCPH1
	Proteinak kodetzen dituen genea
Identifikadoreak
	Homologene: 32586 Genenames: MCPH1 Ensemble: ENSG00000147316 eta Ensemble: ENSG00000285262
Taxoia	Homo sapiens
Asoziazio-genetikoa	Leukopenia; microcephaly 1, primary, autosomal recessive (en)
Kokapena
Kromosoma	human chromosome 8 (en)
Kokapen zitogenetikoa	8p23.1
Hasiera	6264113 bp
Amaiera	6501144 bp
	kokapena
Transkripzioak
RNA ID	NM_001172574, NM_001172575, NM_024596, XM_011534755, XM_011534756, XM_011534757, XM_011534758, XM_011534759, NM_001322042, NM_001322043, NM_001322045, NR_136159, XM_017013829, XM_017013832, XM_017013833, NM_001363979, NM_001363980, XM_047422233 eta XM_047422234
Ensembl	Zerrenda ENST00000522905; ENST00000344683; ENST00000519221; ENST00000519480; ENST00000521129; ENST00000521175; ENST00000522020; ENST00000643429; ENST00000646478; ENST00000644096; ENST00000645678; ENST00000644366; ENST00000647051; ENST00000647416; ENST00000688658; ENST00000689736; ENST00000688099; ENST00000688912; ENST00000690708; ENST00000684782; ENST00000690682; ENST00000690518; ENST00000688101; ENST00000692836; ENST00000687413; ENST00000692534; ENST00000687324; ENST00000688452; ENST00000689348; ENST00000690159; ENST00000689148; ENST00000691435; ENST00000687577; ENST00000691738; ENST00000687720; ENST00000689633; ENST00000691655; ENST00000686882; ENST00000686750; ENST00000690826; ENST00000685179; ENST00000693528; ENST00000693231; ENST00000688388; ENST00000692938; ENST00000687874;
Beste espezieetan
Sagu arrunt	Mcph1 (en)
Arratoi arrunt	Mcph1 (en)
Ontologia
Kodetzen du	Microcephalin 1 (en)
Funtzio-molekularrak	Ikusi proteina lotura; identical protein binding (en) ;
Osagai-zelularra	Ikusi zitoplasma; zitoeskeleto; Nukleoplasma; microtubule organizing center (en) ;
Prozesu-biologikoak	Ikusi cerebral cortex development (en) ; establishment of mitotic spindle orientation (en) ; gene-erregulazio; regulation of kinase activity (en) ; regulation of centrosome cycle (en) ; regulation of inflammatory response (en) ; bone development (en) ; regulation of chromosome condensation (en) ; protein localization to centrosome (en) ; neuronal stem cell population maintenance (en) ; negative regulation of transcription by RNA polymerase II (en) ;

Mikrozefalina (MCPH1) umekiaren burmuinaren garapenean adierazten den gene bat da. MCPH1ren mutazio batzuek, homozigotikoa denean, mikrozefalia gaixotasuna eragin dezakete, burmuinaren tamaina nabarmen murrizten duena^[3]^[4]^[5]^[6]. Horrela, ulertu da MCHP1ren aldaerek burmuinaren garapenari lotuta daudela^[7]^[8]. Hala ere, indibiduo arruntetan ez da oraindik aurkitu inongo ezberdintasunik adimenari edo portaerari dagokionez ez gene honekin ez ASPM mikrozefaliaren beste genean^[9]^[10].

Erreferentziak[aldatu | aldatu iturburu kodea]

↑ eta http://identifiers.org/ensembl/ENSG00000285262 GRCh38: Ensembl release 89: ENSG00000147316 eta ENSG00000285262. Ensembl.
↑ eta http://identifiers.org/ensembl/ENSG00000285262 GRCh38: Ensembl release 89: ENSG00000147316 eta ENSG00000285262. Ensembl.
↑ Jackson, Andrew P.; Eastwood, Helen; Bell, Sandra M.; Adu, Jimi; Toomes, Carmel; Carr, Ian M.; Roberts, Emma; Hampshire, Daniel J. et al.. (2002-07). «Identification of Microcephalin, a Protein Implicated in Determining the Size of the Human Brain» The American Journal of Human Genetics 71 (1): 136–142. doi:10.1086/341283. ISSN 0002-9297. PMID 12046007. PMC PMC419993. (Noiz kontsultatua: 2024-01-18).
↑ (Ingelesez) «Entry - #251200 - MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE; MCPH1 - OMIM» omim.org (Noiz kontsultatua: 2024-01-18).
↑ Jackson, Andrew P.; McHale, Duncan P.; Campbell, David A.; Jafri, Hussain; Rashid, Yasmin; Mannan, Jovaria; Karbani, Gulshan; Corry, Peter et al.. (1998-08). «Primary Autosomal Recessive Microcephaly (MCPH1) Maps to Chromosome 8p22-pter» The American Journal of Human Genetics 63 (2): 541–546. doi:10.1086/301966. ISSN 0002-9297. PMID 9683597. PMC PMC1377307. (Noiz kontsultatua: 2024-01-18).
↑ Jackson, Andrew P.; McHale, Duncan P.; Campbell, David A.; Jafri, Hussain; Rashid, Yasmin; Mannan, Jovaria; Karbani, Gulshan; Corry, Peter et al.. (1998-08). «Primary Autosomal Recessive Microcephaly (MCPH1) Maps to Chromosome 8p22-pter» The American Journal of Human Genetics 63 (2): 541–546. doi:10.1086/301966. ISSN 0002-9297. PMID 9683597. PMC PMC1377307. (Noiz kontsultatua: 2024-01-18).
↑ (Ingelesez) Wang, Yin-qiu; Su, Bing. (2004-06-01). «Molecular evolution of microcephalin, a gene determining human brain size» Human Molecular Genetics 13 (11): 1131–1137. doi:10.1093/hmg/ddh127. ISSN 1460-2083. (Noiz kontsultatua: 2024-01-18).
↑ academic.oup.com doi:10.1093/hmg/ddh126. (Noiz kontsultatua: 2024-01-18).
↑ academic.oup.com doi:10.1093/hmg/ddl126. (Noiz kontsultatua: 2024-01-18).
↑ (Ingelesez) Rushton, J. Philippe; Vernon, Philip A; Bons, Trudy Ann. (2007-04-22). «No evidence that polymorphisms of brain regulator genes Microcephalin and ASPM are associated with general mental ability, head circumference or altruism» Biology Letters 3 (2): 157–160. doi:10.1098/rsbl.2006.0586. ISSN 1744-9561. PMID 17251122. PMC PMC2104484. (Noiz kontsultatua: 2024-01-18).

Kanpo estekak[aldatu | aldatu iturburu kodea]

Datuak: Q6839328

[1] ta http://identifiers.org/ensembl/ENSG00000285262 GRCh38: Ensembl release 89: ENSG00000147316 eta ENSG00000285262. Ensembl.

[2] ta http://identifiers.org/ensembl/ENSG00000285262 GRCh38: Ensembl release 89: ENSG00000147316 eta ENSG00000285262. Ensembl.

[3] Jackson, Andrew P.; Eastwood, Helen; Bell, Sandra M.; Adu, Jimi; Toomes, Carmel; Carr, Ian M.; Roberts, Emma; Hampshire, Daniel J. et al.. (2002-07). «Identification of Microcephalin, a Protein Implicated in Determining the Size of the Human Brain» The American Journal of Human Genetics 71 (1): 136–142. doi:10.1086/341283. ISSN 0002-9297. PMID 12046007. PMC PMC419993. (Noiz kontsultatua: 2024-01-18).

[4] (Ingelesez) «Entry - #251200 - MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE; MCPH1 - OMIM» omim.org (Noiz kontsultatua: 2024-01-18).

[5] Jackson, Andrew P.; McHale, Duncan P.; Campbell, David A.; Jafri, Hussain; Rashid, Yasmin; Mannan, Jovaria; Karbani, Gulshan; Corry, Peter et al.. (1998-08). «Primary Autosomal Recessive Microcephaly (MCPH1) Maps to Chromosome 8p22-pter» The American Journal of Human Genetics 63 (2): 541–546. doi:10.1086/301966. ISSN 0002-9297. PMID 9683597. PMC PMC1377307. (Noiz kontsultatua: 2024-01-18).

[6] Jackson, Andrew P.; McHale, Duncan P.; Campbell, David A.; Jafri, Hussain; Rashid, Yasmin; Mannan, Jovaria; Karbani, Gulshan; Corry, Peter et al.. (1998-08). «Primary Autosomal Recessive Microcephaly (MCPH1) Maps to Chromosome 8p22-pter» The American Journal of Human Genetics 63 (2): 541–546. doi:10.1086/301966. ISSN 0002-9297. PMID 9683597. PMC PMC1377307. (Noiz kontsultatua: 2024-01-18).

[7] (Ingelesez) Wang, Yin-qiu; Su, Bing. (2004-06-01). «Molecular evolution of microcephalin, a gene determining human brain size» Human Molecular Genetics 13 (11): 1131–1137. doi:10.1093/hmg/ddh127. ISSN 1460-2083. (Noiz kontsultatua: 2024-01-18).

[8] academic.oup.com doi:10.1093/hmg/ddh126. (Noiz kontsultatua: 2024-01-18).

[9] academic.oup.com doi:10.1093/hmg/ddl126. (Noiz kontsultatua: 2024-01-18).

[10] (Ingelesez) Rushton, J. Philippe; Vernon, Philip A; Bons, Trudy Ann. (2007-04-22). «No evidence that polymorphisms of brain regulator genes Microcephalin and ASPM are associated with general mental ability, head circumference or altruism» Biology Letters 3 (2): 157–160. doi:10.1098/rsbl.2006.0586. ISSN 1744-9561. PMID 17251122. PMC PMC2104484. (Noiz kontsultatua: 2024-01-18).

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