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nephronophthisis 1 (juvenile), Mouse, Polyclonal Antibody, Abnova™

Mouse polyclonal antibody raised against a full-length human NPHP1 protein.

Manufacturer:  Abnova Corporation H00004867B01

Catalog No. 89-005-870


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Description

Description

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

Sequence: MLARRQRDPLQALRRRNQELKQQVDSLLSESQLKEALEPNKRQHIYQRCIQLKQAIDENKNALQKLSKADESAPVANYNQRKEEEHTLLDKLTQQLQGLAVTISRENITEYASFLPFFFLF
Specifications

Specifications

nephronophthisis 1 (juvenile)
Unconjugated
No additive
NM_207181.1
FLJ97602|JBTS4|NPH1|SLSN1
Mouse
50 uL
Store at -20°C or lower. Aliquot to avoid repeated freezing and thawing.
Primary
4867
Western Blot
Mouse polyclonal antibody raised against a full-length human NPHP1 protein.
NPHP1
Serum
NPHP1
NPHP1 (NP_997064.1, 1 a.a. ~ 121 a.a) full-length human protein.
RUO
Y
Polyclonal
Human
Documents
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