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Symbol SMCR contributors: - updated : 26-01-2006
HGNC name Smith-Magenis syndrome chromosome region
HGNC id 11113
DNA
TYPE chromosome region
MAPPING cloned Y linked Y status confirmed
Map pter - KRT17 - USP6 - SRP68 - TNFRSF13B - D17S740 - D17S71 - [SMS-REPD - COPS3 -CSN3 - NT5M - SMCR9 - RASD1 - D17S620 - PEMT - SMCR2 - SMCR3 - SMCR4 - D17S258 - RAI1 - SREBF1 - SMCR6 - TOM1L2 - ATPAF2 - C17orf39 - DRG2 - MYO15A - D17S2038 - LLGL1 - FLII - D17S447 - SMCR7 - TOP3A - SMCR8 - D17S1715 - SHMT1 - SMS-REPM - PRPSAP2 - D17S29 - GRAP - MAPK7- MFAP4 - ZNF179 - D17S805 - ALDH3A2 - ALDH3A1 - ULK2 - AKAP10 - SMS SMS ] - D17S959 - D17S1871 - cen
Authors Bi (02), Yan (04)
Text common deletion <4Mb , between SMS-REPD and SMS-REPP
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
HOMOLOGY
Homologene
FAMILY
CATEGORY unknown/unspecified
SUBCELLULAR LOCALIZATION
basic FUNCTION unknown
CELLULAR PROCESS
PHYSIOLOGICAL PROCESS
PATHWAY
metabolism
signaling
a component
INTERACTION
DNA
RNA
small molecule
protein
cell & other
REGULATION
ASSOCIATED DISORDERS
corresponding disease(s) SMS
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS