phakinin

a 47-kD lens-specific protein; a tailless intermediate filament protein; an assembly partner of filensin; shows significant homology to type 1 cytokeratins; amino acid sequence given in first source; GenBank X75160

Also Known As:

BFSP-2 protein, human; BFSP2 protein, human; Bfsp-2 protein, mouse; Bfsp2 protein, mouse; CP49 protein, human; CP49 protein, mouse; Cytoskeletal protein, 49-kD, human; Cytoskeletal protein, 49-kD, mouse; PHAKININ protein, human; beaded filament structural protein 2, human; beaded filament structural protein 2, mouse; beaded filament structural protein-2; phakinin protein, mouse

Networked: 3 relevant articles (0 outcomes, 0 trials/studies)

Bio-Agent Context: Research Results

Experts

1.	Beebe, David C: 1 article (08/2015)
2.	Shui, Ying Bo: 1 article (08/2015)
3.	Wang, Li Li: 1 article (08/2015)
4.	Yan, Hong: 1 article (08/2015)
5.	Yan, Wei Jia: 1 article (08/2015)
6.	Zhou, Hai Yan: 1 article (08/2015)
7.	Singh, Daljit: 1 article (01/2009)
8.	Singh, Jai Rup: 1 article (01/2009)
9.	Sperling, Karl: 1 article (01/2009)
10.	Vanita, Vanita: 1 article (01/2009)

Related Diseases

1.	Cataract (Cataracts) 04/01/2000 - "A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2." 01/01/2009 - "Linkage was excluded for the known cataract candidate gene loci at 1p34-36, 1q21-25 (gap junction protein, alpha 8 [GJA8]), 2q33-36 (crystallin, gamma A [CRYGA], crystallin, gamma B [CRYGB], crystallin, gamma C [CRYGC], crystallin, gamma D [CRYGD], crystallin, beta A2 [CRYBA2]), 3q21-22 (beaded filament structural protein 2, phakinin [BFSP2]), 12q12-14 (aquaporin 0 [AQP0]), 13q11-13 (gap junction protein, alpha 3 [GJA3]), 15q21-22, 16q22-23 (v-maf musculoaponeurotic fibrosarcoma oncogene homolog [MAF], heat shock transcription factor 4 [HSF4]), 17q11-12 (crystallin, beta A1 [CRYBA1]), 17q24, 21q22.3 (crystallin, alpha A [CRYAA]), and 22q11.2 (crystallin, beta B1 [CRYBB1], crystallin, beta B2 [CRYBB2], crystallin, beta B3 [CRYBB3], crystallin, beta A4 [CRYBA4]). " 08/01/2015 - "In age-related nuclear cataracts (ARNC), the expression levels of fatty acid-binding protein and pterin-4-alpha-carbinolamine dehydratase were upregulated, whereas the levels of alpha-crystallin B chain (CRYAB), GSH synthetase, phakinin, gamma-crystallin C, phosphoglycerate kinase 1, betaine-homocysteine S-methyltransferase 1 (BHMT1), and spectrin beta chain were downregulated. "
2.	Fibrosarcoma 01/01/2009 - "Linkage was excluded for the known cataract candidate gene loci at 1p34-36, 1q21-25 (gap junction protein, alpha 8 [GJA8]), 2q33-36 (crystallin, gamma A [CRYGA], crystallin, gamma B [CRYGB], crystallin, gamma C [CRYGC], crystallin, gamma D [CRYGD], crystallin, beta A2 [CRYBA2]), 3q21-22 (beaded filament structural protein 2, phakinin [BFSP2]), 12q12-14 (aquaporin 0 [AQP0]), 13q11-13 (gap junction protein, alpha 3 [GJA3]), 15q21-22, 16q22-23 (v-maf musculoaponeurotic fibrosarcoma oncogene homolog [MAF], heat shock transcription factor 4 [HSF4]), 17q11-12 (crystallin, beta A1 [CRYBA1]), 17q24, 21q22.3 (crystallin, alpha A [CRYAA]), and 22q11.2 (crystallin, beta B1 [CRYBB1], crystallin, beta B2 [CRYBB2], crystallin, beta B3 [CRYBB3], crystallin, beta A4 [CRYBA4]). "

Related Drugs and Biologics

1.	Betaine-Homocysteine S-Methyltransferase (Betaine Homocysteine Methyltransferase)
2.	Fatty Acid-Binding Proteins
3.	gamma-Crystallins
4.	alpha-Crystallin B Chain
5.	Connexins
6.	Spectrin
7.	Pterins
8.	Proteins (Proteins, Gene)
9.	Phosphoglycerate Kinase (Kinase, Phosphoglycerate)
10.	Ligases (Synthetase)