Protein diaphanous homolog 2 is a
protein that in humans is encoded by the DIAPH2gene.[5][6]
Function
This gene may play a role in the development and normal function of the ovaries. Mutations of this gene have been linked to premature ovarian failure. Alternative splicing results in two protein isoforms.[6]
^"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.
^Lynch ED, Lee MK, Morrow JE, Welcsh PL, León PE, King MC (Dec 1997). "Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous". Science. 278 (5341): 1315–8.
Bibcode:
1997Sci...278.1315L.
doi:
10.1126/science.278.5341.1315.
PMID9360932.
^Gasman S, Kalaidzidis Y, Zerial M (Mar 2003). "RhoD regulates endosome dynamics through Diaphanous-related Formin and Src tyrosine kinase". Nat. Cell Biol. 5 (3): 195–204.
doi:
10.1038/ncb935.
PMID12577064.
S2CID17891748.
Further reading
Philippe C, Cremers FP, Chery M, Bach I, Abbadi N, Ropers HH, Gilgenkrantz S (1993). "Physical mapping of DNA markers in the q13-q22 region of the human X chromosome". Genomics. 17 (1): 147–52.
doi:
10.1006/geno.1993.1296.
PMID8406446.
Sala C, Arrigo G, Torri G, Martinazzi F, Riva P, Larizza L, Philippe C, Jonveaux P, Sloan F, Labella T, Toniolo D (1997). "Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21". Genomics. 40 (1): 123–31.
doi:
10.1006/geno.1996.4542.
PMID9070928.
Marozzi A, Manfredini E, Tibiletti MG, Furlan D, Villa N, Vegetti W, Crosignani PG, Ginelli E, Meneveri R, Dalprà L (2000). "Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure". Hum. Genet. 107 (4): 304–11.
doi:
10.1007/s004390000364.
PMID11129329.
S2CID11101985.
Sabatino L, Chopra IJ, Tanavoli S, Iacconi P, Iervasi G (2001). "A radioimmunoassay for type I iodothyronine 5'-monodeiodinase in human tissues". Thyroid. 11 (8): 733–9.
doi:
10.1089/10507250152484565.
PMID11525265.
Gasman S, Kalaidzidis Y, Zerial M (2003). "RhoD regulates endosome dynamics through Diaphanous-related Formin and Src tyrosine kinase". Nat. Cell Biol. 5 (3): 195–204.
doi:
10.1038/ncb935.
PMID12577064.
S2CID17891748.
Protein diaphanous homolog 2 is a
protein that in humans is encoded by the DIAPH2gene.[5][6]
Function
This gene may play a role in the development and normal function of the ovaries. Mutations of this gene have been linked to premature ovarian failure. Alternative splicing results in two protein isoforms.[6]
^"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.
^Lynch ED, Lee MK, Morrow JE, Welcsh PL, León PE, King MC (Dec 1997). "Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous". Science. 278 (5341): 1315–8.
Bibcode:
1997Sci...278.1315L.
doi:
10.1126/science.278.5341.1315.
PMID9360932.
^Gasman S, Kalaidzidis Y, Zerial M (Mar 2003). "RhoD regulates endosome dynamics through Diaphanous-related Formin and Src tyrosine kinase". Nat. Cell Biol. 5 (3): 195–204.
doi:
10.1038/ncb935.
PMID12577064.
S2CID17891748.
Further reading
Philippe C, Cremers FP, Chery M, Bach I, Abbadi N, Ropers HH, Gilgenkrantz S (1993). "Physical mapping of DNA markers in the q13-q22 region of the human X chromosome". Genomics. 17 (1): 147–52.
doi:
10.1006/geno.1993.1296.
PMID8406446.
Sala C, Arrigo G, Torri G, Martinazzi F, Riva P, Larizza L, Philippe C, Jonveaux P, Sloan F, Labella T, Toniolo D (1997). "Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21". Genomics. 40 (1): 123–31.
doi:
10.1006/geno.1996.4542.
PMID9070928.
Marozzi A, Manfredini E, Tibiletti MG, Furlan D, Villa N, Vegetti W, Crosignani PG, Ginelli E, Meneveri R, Dalprà L (2000). "Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure". Hum. Genet. 107 (4): 304–11.
doi:
10.1007/s004390000364.
PMID11129329.
S2CID11101985.
Sabatino L, Chopra IJ, Tanavoli S, Iacconi P, Iervasi G (2001). "A radioimmunoassay for type I iodothyronine 5'-monodeiodinase in human tissues". Thyroid. 11 (8): 733–9.
doi:
10.1089/10507250152484565.
PMID11525265.
Gasman S, Kalaidzidis Y, Zerial M (2003). "RhoD regulates endosome dynamics through Diaphanous-related Formin and Src tyrosine kinase". Nat. Cell Biol. 5 (3): 195–204.
doi:
10.1038/ncb935.
PMID12577064.
S2CID17891748.