background:
This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. [provided by RefSeq, Mar 2011].
Function:
Serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SSSPTA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC2-SSSPTB complex displays a preference for C18-CoA substrate.
Subunit:
eterodimer with SPTLC1. Component of the serine palmitoyltransferase (SPT) complex, composed of LCB1/SPTLC1, LCB2 (SPTLC2 or SPTLC3) and ssPT (C14orf147/SSSPTA and C3orf57/SSSPTB).
Subcellular Location:
Endoplasmic reticulum membrane; Single-pass membrane protein.
Tissue Specificity:
Widely expressed.
DISEASE:
Defects in SPTLC2 are the cause of hereditary sensory and autonomic neuropathy type 1C (HSAN1C) [MIM:613128]. It is a form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by prominent sensory abnormalities with a variable degree of motor and autonomic dysfunction. The neurological phenotype is often complicated by severe infections, osteomyelitis, and amputations. HSAN1C symptoms include loss of touch and vibration in the feet, dysesthesia and severe panmodal sensory loss in the upper and lower limbs, distal lower limb sensory loss with ulceration and osteomyelitis, and distal muscle weakness.
Similarity:
Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.
Database links:
Entrez Gene: 9517 Human
Entrez Gene: 20773 Mouse
Entrez Gene: SPTLC2 Pig
Entrez Gene: 366697 Rat
Entrez Gene: 553646 Zebrafish
Omim: 605713 Human
SwissProt: O15270 Human
SwissProt: P97363 Mouse
Unigene: 435661 Human
Unigene: 565 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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