BAIT

TBC1D32

BROMI, C6orf170, C6orf171, bA301B7.2, bA57L9.1, dJ310J6.1, RP1-310J6.1
TBC1 domain family, member 32
GO Process (0)
GO Function (0)
GO Component (0)
Homo sapiens
PREY

AP3B1

ADTB3, ADTB3A, HPS, HPS2, PE
adaptor-related protein complex 3, beta 1 subunit
GO Process (4)
GO Function (2)
GO Component (2)

Gene Ontology Biological Process

Gene Ontology Molecular Function

Gene Ontology Cellular Component

Homo sapiens

Proximity Label-MS

An interaction is inferred when a bait-enzyme fusion protein selectively modifies a vicinal protein with a diffusible reactive product, followed by affinity capture of the modified protein and identification by mass spectrometric methods.

Publication

Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism.

Hietamaeki J, Gregory LC, Ayoub S, Iivonen AP, Vaaralahti K, Liu X, Brandstack N, Buckton AJ, Laine T, Kaensaekoski J, Hero M, Miettinen PJ, Varjosalo M, Wakeling E, Dattani MT, Raivio T

Congenital pituitary hormone deficiencies with syndromic phenotypes and/or familial occurrence suggest genetic hypopituitarism; however, in many such patients the underlying molecular basis of the disease remains unknown.To describe patients with syndromic hypopituitarism due to biallelic loss-of-function variants in TBC1D32, a gene implicated in Sonic Hedgehog (Shh) signaling.Referral center.A Finnish family of 2 siblings with panhypopituitarism, absent anterior pituitary, and mild ... [more]

J Clin Endocrinol Metab Dec. 01, 2019; 105(6); [Pubmed: 32060556]

Throughput

  • Low Throughput

Curated By

  • BioGRID