INT80335

Context Info Confidence 0.75 First Reported 1999 Last Reported 2004 Negated 0 Speculated 0 Reported most in Abstract Documents 4 Total Number 4 Disease Relevance 0.61 Pain Relevance 0.65

small molecule metabolic process (SPTLC1) endoplasmic reticulum (SPTLC1) biosynthetic process (SPTLC1) transferase activity, transferring acyl groups (SPTLC1)

Anatomy Link Frequency dorsal root ganglia 2 SPTLC1 (Homo sapiens)

Pain Link Frequency Relevance Heat Hsan 7 100.00 Peripheral nervous system 1 98.24

Disease Link Frequency Relevance Heat Hereditary Sensory And Autonomic Neuropathies 7 100.00

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

We report here that the gene encoding a subunit of serine palmitoyltransferase is located within the HSN1 locus, expressed in dorsal root ganglia (DRG) and mutated in HSN1.

Localization (located) of HSN1 in dorsal root ganglia

1) Confidence 0.75 Published 2001 Journal Nat. Genet. Section Abstract Doc Link 11242106 Disease Relevance 0.17 Pain Relevance 0.17

We report here that the gene encoding a subunit of serine palmitoyltransferase is located within the HSN1 locus, expressed in dorsal root ganglia (DRG) and mutated in HSN1.

Localization (located) of HSN1 in dorsal root ganglia

2) Confidence 0.75 Published 2001 Journal Nat. Genet. Section Abstract Doc Link 11242106 Disease Relevance 0.17 Pain Relevance 0.17

From its expression pattern and its chromosomal localization, PHF2 is a candidate gene for hereditary sensory neuropathy type I, HSN1.

Localization (localization) of HSN1 associated with hsan

3) Confidence 0.23 Published 1999 Journal Mamm. Genome Section Abstract Doc Link 10051327 Disease Relevance 0.10 Pain Relevance 0.10

HSN I locus maps to chromosome 9q22.1-22.3 and is caused by mutations in the gene coding for serine palmitoyltransferase long-chain base subunit 1 (SPTLC1).

Localization (caused) of HSN I

4) Confidence 0.02 Published 2004 Journal Neurology Section Abstract Doc Link 15037712 Disease Relevance 0.17 Pain Relevance 0.22

General Comments

This test has worked.