Name: Anti-FKRP Antibody (CAB10194)
Brand: Cell Biology Antibodies 1
SKU: CAB10194
Availability: OutOfStock

Antibody Name:	Anti-FKRP Antibody
Antibody SKU:	CAB10194
Antibody Size:	20uL, 50uL, 100uL
Application:	WB IHC
Reactivity:	Human, Mouse, Rat
Host Species:	Rabbit
Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 30-220 of human FKRP (NP_077277.1).

Application:	WB IHC
Recommended Dilution:	WB 1:1000 - 1:3000 IHC 1:50 - 1:200
Reactivity:	Human, Mouse, Rat
Positive Samples:	U-87MG, LO2, A-549, HT-29, 293T

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 30-220 of human FKRP (NP_077277.1).
Purification Method:	Affinity purification
Storage Buffer:	Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:	IgG
Sequence:	QPRN SRAR GPRR ASAA GPRV TVLV REFE AFDN AVPE LVDS FLQQ DPAQ PVVV AADT LPYP PLAL PRIP NVRL ALLQ PALD RPAA ASRP ETYV ATEF VALV PDGA RAEA PGLL ERMV EALR AGSA RLVA APVA TANP ARCL ALNV SLRE WTAR YGAA PAAP RCDA LDGD AVVL LRAR DLFN LSAP LARP VGT
Gene ID:	79147
Uniprot:	Q9H9S5
Cellular Location:	Cell membrane, Golgi apparatus membrane, Rough endoplasmic reticulum, Secreted, Single-pass type II membrane protein, sarcolemma
Calculated MW:	54kDa
Observed MW:	45kDa

Synonyms:

FKRP, LGMD2I, MDC1C, MDDGA5, MDDGB5, MDDGC5

Background:

This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, mental retardation, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.

UniProt Protein Function:	FKRP: Could be a transferase involved in the modification of glycan moieties of alpha-dystroglycan (DAG1). Defects in FKRP are the cause of muscular dystrophy- dystroglycanopathy congenital with brain and eye anomalies type A5 (MDDGA5). MDDGA5 is an autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye- brain disease. Defects in FKRP are the cause of muscular dystrophy- dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5). MDDGB5 is a congenital muscular dystrophy characterized by a severe phenotype with inability to walk, muscle hypertrophy, marked elevation of serum creatine kinase, a secondary deficiency of laminin alpha2, and a marked reduction in alpha-dystroglycan expression. Only a subset of MDDGB5 patients have brain involvements. Defects in FKRP are the cause of muscular dystrophy- dystroglycanopathy limb-girdle type C5 (MDDGC5); also known as limb-girdle muscular dystrophy type 2I. MDDGC5 is an autosomal recessive disorder with age of onset ranging from childhood to adult life, and variable severity. Clinical features include proximal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency. A reduction of alpha-dystroglycan and laminin alpha-2 expression can be observed on skeletal muscle biopsy from MDDGC5 patients. Belongs to the LicD transferase family.
UniProt Protein Details:	Protein type:EC 2.-.-.-; Membrane protein, integral; Transferase Chromosomal Location of Human Ortholog: 19q13.32 Cellular Component: extracellular space; Golgi apparatus; rough endoplasmic reticulum Biological Process: protein amino acid O-linked mannosylation Disease: Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 1; Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 5; Muscular Dystrophy-dystroglycanopathy (congenital With Or Without Mental Retardation), Type B, 5; Muscular Dystrophy-dystroglycanopathy (limb-girdle), Type C, 5
NCBI Summary:	This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, mental retardation, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2008]
UniProt Code:	Q9H9S5
NCBI GenInfo Identifier:	46395992
NCBI Gene ID:	79147
NCBI Accession:	Q9H9S5.1
UniProt Secondary Accession:	Q9H9S5,A8K5G7,
UniProt Related Accession:	Q9H9S5
Molecular Weight:	54,568 Da
NCBI Full Name:	Fukutin-related protein
NCBI Synonym Full Names:	fukutin related protein
NCBI Official Symbol:	FKRP
NCBI Official Synonym Symbols:	MDC1C; LGMD2I; MDDGA5; MDDGB5; MDDGC5
NCBI Protein Information:	fukutin-related protein
UniProt Protein Name:	Fukutin-related protein
Protein Family:	Fukutin-related protein
UniProt Gene Name:	FKRP
UniProt Entry Name:	FKRP_HUMAN

Western blot analysis of extracts of various cell lines, using FKRP antibody (CAB10194) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 5s.

Antibodies

FKRP Antibody (PACO05353)

Secondary Antibody

Anti-HRP Goat Anti-Rabbit IgG (H+L) Antibody (CABS014)