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FLASH GENE

Symbol

SPG21

contributors: mct/shn - updated : 03-08-2010

HGNC name	spastic paraplegia 21 (autosomal recessive, Mast syndrome)
HGNC id	20373

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	26.89 kb     9 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D15S1009 - D15S108 - SPG21 SPG21 - D15S1507 - D15S1020 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001127890 (transcript variant 3) 8 splicing 1734 NP_001121362 - 281 - Simpson et al, 2003 NM_016630 (transcript variant 1) 9 splicing 1815 NP_057714 33 308 - Simpson et al, 2003 NM_001127889 (transcript variant 2) 9 splicing 1635 NP_001121361 - 308 - Simpson (2003)

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine pancreas         Nervous brain         Reproductive male system prostate       Respiratory lung         Skin/Tegument skin         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone       Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies	ortholog to Spg21, Mus musculus
	ortholog to SPG21, Pan troglodytes
	ortholog to Spg21, Rattus norvegicus
	ortholog to spg21, Danio rerio

Homologene

FAMILY

AB hydrolase superfamily

CATEGORY

regulatory , receptor membrane

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,organelle,endosome
text	localizes prominently to cytoplasm as well as to membranes, possibly at trans-Golgi network/late endosomal compartments (Hanna 2008)
	localize to the endosomal membrane traffic compartment, suggesting that the long axons of the corticospinal tract may be especially vulnerable to endosomal dysfunction (Tsang 2009)

basic FUNCTION	ligand of CD4 (Zeitlmann 2001)
	aldehyde dehydrogenase ALDH16A1 (Hanna 2009)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	binding to CD4
	interacting with the aldehyde dehydrogenase ALDH16A1 (Hanna 2008)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SPG21

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

SPG21-/- knockout mice are normal at birth, within several months they develop gradually progressive hind limb dysfunction and display alterations in axon branching in cultured cerebral cortical neurons (Soderblom et al, 2010)