IQSEC2

Iz Wikipedije, slobodne enciklopedije
Idi na navigaciju Idi na pretragu
edit
IQ motiv i Sec7 domen 2
Identifikatori
SimboliIQSEC2; BRAG1; MRX1
Vanjski IDOMIM300522 MGI3528396 HomoloGene19407 GeneCards: IQSEC2 Gene
Ortolozi
VrstaČovekMiš
Entrez23096245666
EnsemblENSG00000124313ENSMUSG00000041115
UniProtQ5JU85Q5DU25
Ref. Sekv. (iRNK)NM_001111125NM_001005475
Ref. Sekv. (protein)NP_001104595NP_001005475
Lokacija (UCSC)Chr HG1433_PATCH:
52.98 - 53.06 Mb
Chr X:
152.14 - 152.23 Mb
PubMed pretraga[1][2]

IQ motiv i Sec7 domen 2 je protein koji je kod čoveka kodiran IQSEC2 genom.[1][2]

Funkcija[uredi - уреди | uredi izvor]

IQSEC2 gen kodira faktor razmene guaninskog nukleotida za ARF familiju GTP vezujućih proteina (na primer ARF1).[3]

Klinički značaj[uredi - уреди | uredi izvor]

Ovaj protein je povezan sa X-vezanom mentalnom retardacijom 1.[3]

Reference[uredi - уреди | uredi izvor]

  1. "Entrez Gene: IQ motif and Sec7 domain 2". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23096. 
  2. Nagase T, Ishikawa K, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (February 1998). "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 5 (1): 31–9. PMID 9628581. doi:10.1093/dnares/5.1.31. 
  3. 3,0 3,1 Shoubridge C, Tarpey PS, Abidi F, Ramsden SL, Rujirabanjerd S, Murphy JA, Boyle J, Shaw M, Gardner A, Proos A, Puusepp H, Raymond FL, Schwartz CE, Stevenson RE, Turner G, Field M, Walikonis RS, Harvey RJ, Hackett A, Futreal PA, Stratton MR, Gécz J (June 2010). "Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability". Nat. Genet. 42 (6): 486–8. PMID 20473311. doi:10.1038/ng.588. 

Literatura[uredi - уреди | uredi izvor]