GDAP1
Gangliozid-inducirani diferencijacijskopridruženi protein 1 je protein koji je kod ljudi kodiran genom GDAP1.[5][6]
Aminokiselinska sekvenca uredi
Dužina polipeptidnog lanca je 358 aminokiselina, а molekulska težina 41.346 Da.[7]
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MAERQEEQRG | SPPLRAEGKA | DAEVKLILYH | WTHSFSSQKV | RLVIAEKALK | ||||
| CEEHDVSLPL | SEHNEPWFMR | LNSTGEVPVL | IHGENIICEA | TQIIDYLEQT | ||||
| FLDERTPRLM | PDKESMYYPR | VQHYRELLDS | LPMDAYTHGC | ILHPELTVDS | ||||
| MIPAYATTRI | RSQIGNTESE | LKKLAEENPD | LQEAYIAKQK | RLKSKLLDHD | ||||
| NVKYLKKILD | ELEKVLDQVE | TELQRRNEET | PEEGQQPWLC | GESFTLADVS | ||||
| LAVTLHRLKF | LGFARRNWGN | GKRPNLETYY | ERVLKRKTFN | KVLGHVNNIL | ||||
| ISAVLPTAFR | VAKKRAPKVL | GTTLVVGLLA | GVGYFAFMLF | RKRLGSMILA | ||||
| FRPRPNYF |
Funkcija uredi
Ovaj gen kodira člana proteinske porodice povezane sa gangliozidom, koja može imati ulogu u putu transdukcije signala tokom razvoja neurona. Mutacije u ovom genu povezane su s različitim oblicima [[Ovaj gen kodira člana proteinske porodice povezane sa gangliozidom, koja može igrati ulogu u putu transdukcije signala tokom razvoja neurona. Mutacije u ovom genu povezane su s različitim oblicima Charcot-Marie-Toothovom bolšću i neuropatijama. Za ovaj gen su identificirane dvije varijante transkripta koje kodiraju različite izoforme.[6]
Reference uredi
- ^ a b c GRCh38: Ensembl release 89: ENSG00000104381 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025777 - Ensembl, maj 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Gauldie J, Bhandari SC, Singal DP (Apr 1976). "Alteration of the HL-A antigenic site in situ". Immunol Commun. 4 (5): 465–76. doi:10.3109/08820137509057334. PMID 54332.
- ^ a b "Entrez Gene: GDAP1 ganglioside-induced differentiation-associated protein 1".
- ^ "UniProt, Q8TB36" (jezik: engleski). Pristupljeno 18. 9. 2021.
Dopunska literatura uredi
- Liu H, Nakagawa T, Kanematsu T, et al. (1999). "Isolation of 10 differentially expressed cDNAs in differentiated Neuro2a cells induced through controlled expression of the GD3 synthase gene". J. Neurochem. 72 (5): 1781–90. doi:10.1046/j.1471-4159.1999.0721781.x. PMID 10217254. S2CID 8214053.
- Brockington M, Blake DJ, Prandini P, et al. (2002). "Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan". Am. J. Hum. Genet. 69 (6): 1198–209. doi:10.1086/324412. PMC 1235559. PMID 11592034.
- Baxter RV, Ben Othmane K, Rochelle JM, et al. (2002). "Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21". Nat. Genet. 30 (1): 21–2. doi:10.1038/ng796. PMID 11743579. S2CID 11340817.
- Cuesta A, Pedrola L, Sevilla T, et al. (2002). "The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease". Nat. Genet. 30 (1): 22–5. doi:10.1038/ng798. PMID 11743580. S2CID 1120901.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Nelis E, Erdem S, Van Den Bergh PY, et al. (2003). "Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy". Neurology. 59 (12): 1865–72. doi:10.1212/01.wnl.0000036272.36047.54. PMID 12499475. S2CID 34484332.
- Senderek J, Bergmann C, Ramaekers VT, et al. (2003). "Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy". Brain. 126 (Pt 3): 642–9. doi:10.1093/brain/awg068. PMID 12566285.
- Boerkoel CF, Takashima H, Nakagawa M, et al. (2003). "CMT4A: identification of a Hispanic GDAP1 founder mutation". Ann. Neurol. 53 (3): 400–5. doi:10.1002/ana.10505. PMID 12601710. S2CID 28683764.
- Birouk N, Azzedine H, Dubourg O, et al. (2003). "Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene". Arch. Neurol. 60 (4): 598–604. doi:10.1001/archneur.60.4.598. PMID 12707075.
- Azzedine H, Ruberg M, Ente D, et al. (2003). "Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene". Neuromuscul. Disord. 13 (4): 341–6. doi:10.1016/S0960-8966(02)00281-X. PMID 12868504. S2CID 28668205.
- Ammar N, Nelis E, Merlini L, et al. (2003). "Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease". Neuromuscul. Disord. 13 (9): 720–8. doi:10.1016/S0960-8966(03)00093-2. PMID 14561495. S2CID 22727918.
- Stojkovic T, Latour P, Viet G, et al. (2004). "Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene". Neuromuscul. Disord. 14 (4): 261–4. doi:10.1016/j.nmd.2004.01.003. PMID 15019704. S2CID 28092053.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Pedrola L, Espert A, Wu X, et al. (2005). "GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria". Hum. Mol. Genet. 14 (8): 1087–94. doi:10.1093/hmg/ddi121. PMID 15772096.
- Claramunt R, Pedrola L, Sevilla T, et al. (2006). "Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect". J. Med. Genet. 42 (4): 358–65. doi:10.1136/jmg.2004.022178. PMC 1736030. PMID 15805163.
- Kabzińska D, Kochański A, Drac H, et al. (2006). "A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease". J. Neurol. Sci. 241 (1–2): 7–11. doi:10.1016/j.jns.2005.10.002. PMID 16343542. S2CID 11433631.
- Biancheri R, Zara F, Striano P, et al. (2007). "GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features". J. Neurol. 253 (9): 1234–5. doi:10.1007/s00415-006-0149-4. PMID 16607474. S2CID 1418015.
- Shield AJ, Murray TP, Board PG (2006). "Functional characterisation of ganglioside-induced differentiation-associated protein 1 as a glutathione transferase". Biochem. Biophys. Res. Commun. 347 (4): 859–66. doi:10.1016/j.bbrc.2006.06.189. PMID 16857173.
- Baránková L, Vyhnálková E, Züchner S, et al. (2007). "GDAP1 mutations in Czech families with early-onset CMT". Neuromuscul. Disord. 17 (6): 482–9. doi:10.1016/j.nmd.2007.02.010. PMID 17433678. S2CID 29318571.
External links uredi
- Bird, Thomas D (30. 1. 2014). "Charcot-Marie-Tooth Neuropathy Type 2 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY". Charcot-Marie-Tooth Neuropathy Type 2. University of Washington, Seattle. PMID 20301462. NBK1285. In Pagon RA, Bird TD, Dolan CR, et al., ured. (1993). GeneReviews [Internet]. Seattle WA: University of Washington, Seattle.
- Bird, Thomas D (26. 9. 2013). "Charcot-Marie-Tooth Neuropathy Type 4 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY". Charcot-Marie-Tooth Neuropathy Type 4. University of Washington, Seattle. NBK1468. In GeneReviews
- Züchner, Stephan; Vance, Jeffery M (28. 2. 2013). "GDAP1-Related Hereditary Motor and Sensory Neuropathy". Charcot-Marie-Tooth Neuropathy Type 4A. University of Washington, Seattle. NBK1539. In GeneReviews