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HEF Like Protein (HEFL)

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CASS4; HEPL; C20orf32; Cas Scaffolding Protein Family Member 4; HEF1-Efs-p130Cas-Like

HEF Like Protein (HEFL)
CCC T352
HGNC 15878
MGI 2444482
RGD 1310643
UniProt Q9NQ75
C20orf32 is disrupted in addition to NFIA in DGAP104, whereas in DGAP089 disruption of NEGR1 and deletion of 39 genes in del occurred. Besides the disruption or deletion of NFIA, none of the other of these genetic aberrations is shared by more than three cases. Therefore, the most parsimonious explanation for the observed CNS phenotypes is NFIA haploinsufficiency, which is the only common genetic defect shared by all five individuals.
C20orf32 was also disrupted by the 20q13.31 breakpoint. A contribution of C20orf32 disruption to the spinal and kidney phenotypes in DGAP104 is unlikely, however, because C20orf32 expression was not detected in the developing spinal cord or kidney by in situ hybridization.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant HEF Like Protein (HEFL) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to HEF Like Protein (HEFL) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to HEF Like Protein (HEFL) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for HEF Like Protein (HEFL) CLIA Kit Customized Service Offer
n/a ELISA Kit for HEF Like Protein (HEFL) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant HEF Like Protein (HEFL) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to HEF Like Protein (HEFL) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to HEF Like Protein (HEFL) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for HEF Like Protein (HEFL) CLIA Kit Customized Service Offer
n/a ELISA Kit for HEF Like Protein (HEFL) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant HEF Like Protein (HEFL) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to HEF Like Protein (HEFL) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to HEF Like Protein (HEFL) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for HEF Like Protein (HEFL) CLIA Kit Customized Service Offer
n/a ELISA Kit for HEF Like Protein (HEFL) ELISA Kit Customized Service Offer
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  2. "The DNA sequence and comparative analysis of human chromosome 20." Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  4. "Phosphoproteome of resting human platelets."J. Proteome Res. 7:526-534(2008) [PubMed] [Europe PMC] [Abstract]
  5. "A novel Cas family member, HEPL, regulates FAK and cell spreading."Mol. Biol. Cell 19:1627-1636(2008) [PubMed] [Europe PMC] [Abstract]
  6. "Solution structure of RSGI RUH-036, an SH3 domain from human."Submitted (NOV-2005) to the PDB data bank