Target intelligence / Profile preview

Calmodulin-regulated spectrin-associated protein 1 (CAMSAP1)

Target
CAMSAP1
Molecular classification
Other, Microtubule-associated protein
01

Overview

Calmodulin-regulated spectrin-associated protein 1 (CAMSAP1) is a microtubule-associated protein that plays a crucial role in stabilizing and organizing the minus ends of non-centrosomal microtubules[1][2][3]. It enables microtubule minus-end binding and spectrin binding activities, contributing to neuron projection development, neuronal polarization, axon/dendrite differentiation, and cytoskeletal organization[1][2][3]. CAMSAP1 is highly expressed in nervous tissue, testis, and liver[2], and is indispensable for proper neuronal migration and brain cortical development; loss-of-function bi-allelic variants in humans cause a recognizable syndromic neuronal migration disorder manifesting as cortical dysplasia with other brain malformations[1][3]. Animal studies reveal an essential role in spermatid differentiation and sperm head morphogenesis, with CAMSAP1-deficient male mice exhibiting abnormal manchette microtubule dynamics and male infertility[2]. CAMSAP1 interacts with various microtubule/cilium-related proteins, including CEP170 and KIF2A, to regulate the structure and function of microtubule minus ends, particularly during neurodevelopment and spermiogenesis[2]. CAMSAP1 is not currently considered a therapeutic target or direct drug target; no drugs are known to interact with this protein[3].

Other names
CAMSAP1FLJ31228DKFZp434F195CDCBM12calmodulin-regulated spectrin-associated protein 1epididymis secretory sperm binding protein
02

Biological functions

Microtubule minus-end bindingRegulation of microtubule dynamicsNeuron projection developmentRegulation of cell morphogenesisNeuronal polarizationNeurite/axon/dendrite differentiationSpermiogenesis
03

Disease associations

Neurodevelopmental disorder (Complex cortical dysplasia with other brain malformations)Cortical Dysplasia, Complex, With Other Brain Malformations 12Male infertility

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