NPHP1 产品
(Nephronophthisis 1 (Juvenile) (NPHP1))
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This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
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Featured NPHP1 Categories
Recommended NPHP1 抗体
Product
Reactivity
Application
Validations
Cat. No.
Quantity
Datasheet
Reactivity
Human
Application
WB, IHC, IF
Validations
- (7)
Cat. No.
ABIN6144768
Quantity
100 μL
Datasheet
Datasheet
Reactivity
Human
Application
WB, IP
Validations
- (4)
Cat. No.
ABIN518422
Quantity
100 μL
Datasheet
Datasheet
Reactivity
Human
Application
ELISA, IHC, IF
Validations
- (3)
Cat. No.
ABIN7161152
Quantity
100 μg
Datasheet
Datasheet
Recommended NPHP1 蛋白
Product
Reactivity
Source
Validations
Cat. No.
Quantity
Datasheet
Reactivity
Human
Source
Wheat germ
Validations
- (1)
Cat. No.
ABIN1312861
Quantity
10 μg
Datasheet
Datasheet
Reactivity
Human
Source
Wheat germ
Validations
- (1)
Cat. No.
ABIN1312863
Quantity
10 μg
Datasheet
Datasheet
Reactivity
Human
Source
Tobacco (Nicotiana tabacum)
Validations
Cat. No.
ABIN3094243
Quantity
1 mg
Datasheet
Datasheet
Synonyms and alternative names related to NPHP1
nephrocystin 1 (NPHP1), nephronophthisis 1 (juvenile) homolog (human) (Nphp1), nephrocystin 1 (Nphp1), nephronophthisis 1 (juvenile) L homeolog (nphp1.L), nephronophthisis 1 (nphp1), nephrocystin-1 (LOC100725987), im:7162391, JBTS4, nephrocystin-1, NPH1, NPHP1, Nphp1, SLSN1, wu:fi59g07, zgc:152930Protein level used designations for NPHP1
- juvenile nephronophthisis 1 protein
- nephrocystin 1
- nephrocystin-1
- nephronophthisis 1 (juvenile) homolog
- nephrocystin
- nephrocystin1
- nephronophthisis 1 (juvenile)
- nephrocystin-1-like
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