Anti-Dymeclin Antibody (CAB8222)

Antibody Name:	DYM Rabbit Polyclonal Antibody
Antibody SKU:	CAB8222
Antibody Size:	20uL, 50uL, 100uL
Application:	WB
Reactivity:	Human
Host Species:	Rabbit
Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 1-250 of human DYM (NP_060123.3).

Application:	WB
Recommended Dilution:	WB 1:500 - 1:2000
Reactivity:	Human
Positive Samples:	293T, HepG2, HeLa

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 1-250 of human DYM (NP_060123.3).
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:	MGSN SSRI GDLP KNEY LKKL SGTE SISE NDPF WNQL LSFS FPAP TSSS ELKL LEEA TISV CRSL VENN PRTG NLGA LIKV FLSR TKEL KLSA ECQN HIFI WQTH NALF IICC LLKV FICQ MSEE ELQL HFTY EEKS PGNY SSDS EDLL EELL CCLM QLIT DIPL LDIT YEIS VEAI STMV VFLS CQLF HKEV LRQS ISHK YLMR GPCL PYTS KLVK TLLY NFIR QEKP PPPG AHVF PQQS DGGG LLYG LA
Gene ID:	54808
Uniprot:	Q7RTS9
Cellular Location:	Cytoplasm, Golgi apparatus, Lipid-anchor, Membrane
Calculated MW:	54kDa/75kDa
Observed MW:	78kDa

Synonyms:	DYM, DMC, SMC, dymeclin
Background:	This gene encodes a protein which is necessary for normal skeletal development and brain function. Mutations in this gene are associated with two types of recessive osteochondrodysplasia, Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia, which involve both skeletal defects and mental retardation.

UniProt Protein Function:	DYM: Necessary for correct organization of Golgi apparatus. Involved in bone development. Defects in DYM are the cause of Dyggve-Melchior-Clausen syndrome (DMC). DMC is a rare autosomal recessive disorder characterized by short trunk dwarfism, microcephaly and psychomotor retardation. Electron microscopic study of cutaneous cells of affected patients shows dilated rough endoplasmic reticulum, enlarged and aberrant vacuoles and numerous vesicles. DMC is progressive. Defects in DYM are the cause of Smith-McCort dysplasia (SMC). SMC is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest, features identical to those of Dyggve-Melchior-Clausen syndrome. Belongs to the dymeclin family. 2 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:	Protein type:Membrane protein, integral Chromosomal Location of Human Ortholog: 18q21.1 Cellular Component: Golgi apparatus; cytoplasm Molecular Function:protein binding; enzyme binding Biological Process: Golgi organization and biogenesis Disease: Dyggve-melchior-clausen Disease; Smith-mccort Dysplasia 1
NCBI Summary:	This gene encodes a protein which is necessary for normal skeletal development and brain function. Mutations in this gene are associated with two types of recessive osteochondrodysplasia, Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia, which involve both skeletal defects and mental retardation. [provided by RefSeq, Jul 2008]
UniProt Code:	Q7RTS9
NCBI GenInfo Identifier:	68565365
NCBI Gene ID:	54808
NCBI Accession:	Q7RTS9.1
UniProt Secondary Accession:	Q7RTS9,Q3ZTS8, Q6P2P5, Q8N2M0, Q9BVE9, Q9NPU7, A8K5I8 B2RCF9, B4DKI7,
UniProt Related Accession:	Q7RTS9
Molecular Weight:	54,425 Da
NCBI Full Name:	Dymeclin
NCBI Synonym Full Names:	dymeclin
NCBI Official Symbol:	DYM
NCBI Official Synonym Symbols:	DMC; SMC
NCBI Protein Information:	dymeclin; dyggve-Melchior-Clausen syndrome protein
UniProt Protein Name:	Dymeclin
UniProt Synonym Protein Names:	Dyggve-Melchior-Clausen syndrome protein
Protein Family:	Dymeclin
UniProt Gene Name:	DYM
UniProt Entry Name:	DYM_HUMAN

Secondary Antibody

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