Alt. symbols: TTC37 | KIAA0372 | THES

Approved name: SKI3 subunit of superkiller complex
Alt. names: KIAA0372 | thespin

Location: 5q15: 95461755 - 95555050 (-)
Gene type: protein_coding, 63 transcripts.

Scores: LoFtool: 0.944000 | pLI: 0.00000000 | LOEUF: 0.783

HGNC: 23639

NCBI: 9652, RefSeq: NG_023414.1

Ensembl: ENSG00000198677.13

LRG_173 | Status: public

OMIM: 614589

Expression | ProteinAtlas

TTC37 encodes a component of the SKI complex, which is thought to be involved in exosome-mediated RNA decay and associates with transcriptionally active genes in a manner dependent on the PAF1 complex (PAF1C).

Biallelic frameshift, nonsense, and splice site mutations in TTC37 are associated with autosomal recessive trichohepatoenteric syndrome 1 [MIM:222470]. A broad spectrum of clinical findings can be associated with this condition, including intrauterine growth retardation, woolly hair, dysmorphic craniofacial features, intractable diarrhea with villous atrophy in infancy, and immunodeficiency. Liver disease, which may manifest as neonatal hemochromatosis, hepatomegaly, transaminitis, cholestatic j aundice, and/or cirrhosis, generally contributes to the poor prognosis of affected patients. More recently, Christiansen et al. (2020) identified a heterozygous likely deleterious frameshift variant (S1330fs*14) in a 34-year-old patient diagnosed with “atypical CVID” at age 26 for her history of hypogammaglobulinemia, multiple sclerosis, recurrent miscarriages, and inflammatory bowel disease with an episode of autoimmune pancreatitis (PMID: 32047491). Of note, this variant also segregated with other family members (mother, brother and sister) who shared her symptoms, but was not found in her 2 unaffected brothers and healthy father. [Load More]