SPTSSA Chromosome 14

Serine palmitoyltransferase small subunit A

2 variants 2 Health Risk

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What This Gene Does

Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the first committed and rate-limiting step in sphingolipid biosynthesis. SSSPTA is a small SPT subunit that stimulates SPT activity and confers acyl-CoA preference to the SPT catalytic heterodimer of SPTLC1 (MIM 605712) and either SPTLC2 (MIM 605713) or SPTLC3 (MIM 611120) (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010]

Gene Info

Gene Group

Serine palmitoyltransferase small subunits

Locus Type

gene with protein product

Location

14q13.1

Ensembl

ENSG00000165389

Associated Conditions (4)

Spastic paraplegia 90A

autosomal dominant

Spastic paraplegia 90B

autosomal recessive

Key Variants

RS2502075796

Pathogenic

Spastic paraplegia 90A, autosomal dominant, Spastic paraplegia 90A

Health Risk

RS774537505

Pathogenic

Spastic paraplegia 90B, autosomal recessive, Spastic paraplegia 90B

Health Risk

All Variants (2)

RSID	Category	Clinical Significance	Conditions
RS2502075796	Health Risk	Pathogenic	Spastic paraplegia 90A, autosomal dominant, Spastic paraplegia 90A
RS774537505	Health Risk	Pathogenic	Spastic paraplegia 90B, autosomal recessive, Spastic paraplegia 90B